Review of 2016

Another year has past and its time for me to reflect what has happened during the year.

Knowledge

This year I have learnt a lot. I have been to two conferences - the drug re-purposing one run in London by Findacure in February and the Ataxia/HSP one run by the Spatax network in Paris in April. Lots of bits of information has gone in, and I've been talking with various researchers and professionals at both conferences. I've also kept a brief eye out on the news reported by the US and Australian HSP groups.

Symptoms

Overall, I think that 2016 has been fairly stable. I'd been thinking that things were getting gradually worse, but my appointment at the HSP clinic suggested that my gait might be better. The various stretches, in-soles, bladder medication and Pilates mean things aren't changing quickly. Looking at my charts I think I've been a bit less depressed and with less fatigue than previous years, I might be spotting the return of more bladder/bowel issues though.

For a while during the year I logged my sleep patterns, and I'm fairly confident that my fatigue is predominantly due to lack of sleep, rather than any HSP issues.

This Blog

As last year, the readership of this blog continues to increase. I'm continuing to get year on year reader growth. My audience remains broadly the same (predominantly US, UK, Russia, Ukraine, France, Germany, Turkey, Canada). The most popular posts continue to be the results of my survey, the various presentations/posters given at meetings and my general posts on research and particular HSP symptoms.

I've had various comments made that people appreciate reading what I have to say, which I'm very pleased to receive and gives another reason why this is a worthwhile thing to do. Thank you to anyone that makes a comment or connects up with me in some other way.

Survey

I was pleased that the results of my 2015 survey got similar levels of readership to my 2013 and 2014 surveys, confirming that these are of use and interest to people, and backing up my decision to do one each year, this year seeking opinions on matters to survey from others. I was very pleased to present the results of my first three surveys at the HSP meeting in Paris.

I'll follow the same path for the 2016 survey - analysis will start in the new year so I can analyse, write up and publish on 28th Feb - Rare disease day. This survey already has more responses that my other surveys, and there are still a few more days when I'll be taking answers!

Community Contribution

HSP Community activities for 2016 included:

• Attending the drug re-purposing and HSP conferences on behalf of the UK Support Group.
• Using my network (thats you!) to unlock HSP on the Re(act) community
• Being an active member of the UK Support Group committee.
• Publicising my companies volunteer days benefit by reporting what I've used them for.
• Seeking out other on-line HSP communities principally to spread the word of my survey
• Continuing this blog and posting/discussing HSP things on twitter.

I reflect that there are opportunities for better communication between similar condition support groups, to make the journey of mis-diagnosis potentially easier.

How far does my blog reach?

One of the questions I wonder about is where in the world do people live who read my blog. Blogger statistics give me the top 10 countries where people have clicked through to this blog, and I've been keeping track of this, and you can see this tracking on the blog statistics page http://hspjourney.blogspot.co.uk/p/blog-statis.html. My general observation was that readers are predominantly in the UK and US, and there is a reasonably consistent set of other countries where there are readers, frequently being in the top 10 on a monthly basis. Other countries do pop up on a weekly or daily basis, but there didnt seem to be much of a pattern.

Why do I ask this? Most of the HSP groups that I'm aware of are in the UK, US, Europe and Australia. There are a few groups from other parts of the world on Facebook. I'm trying to share my blog as far as I can, and I was wondering which other websites might be worth my visiting. A couple of years ago I found this link:
http://www.smartplanet.com/blog/bulletin/map-the-countries-where-google-and-facebook-dont-rule-the-web/31343 with data from 2013 which shows that Google and Facebook "rule the world" as far as most frequently visited websites go. I've not found an updated version of this map, but the late 2016 position for global websites is here: http://www.alexa.com/topsites and you can see that YouTube is in position 2. My initial thought was that I've got Google and Facebook covered - and its just a question of making sure I'm well searchable!

In discussion with colleagues at work the other month we were discussing Google Analytics, and I enabled that on this blog back in April 2016. This gives a much more comprehensive set of data, and I'm looking to work out how to integrate this information with the Blogger statistics for my long-term tracking.

Headlines are that since April 2016:

25% of my readers are return visitors and 75% are viewing the blog for the first time. There have been over 2000 individuals view the blog in that time, spending on average 2 minutes to read 3 pages.

The top 10 countries are similar to that shown by Blogger (percentage is number of times visited):
1. United Kingdom (33.55%)
2. United States (23.83%)
3. Russia (5.44%)
4. Canada (4.56%)
5. Brazil (3.94%)
6. Australia (3.80%)
7. France (3.55%)
8. Netherlands (2.16%)
9. Italy (2.06%)
10. Belgium (1.57%)

Overall there have been readers from 75 countries. I've had readers from pretty much every European country, the majority of the Americas, Oceania, and Asia, and perhaps a fifth of Africa. There are 26 countries where average time spent reading the blog is more than 1 minute.

Most visitors arrive via a search engine (34%), a link from another site (23%), visiting directly (23%) or through social media (19%). The other site links include the US, UK and Australian group websites (sp-foundation.org, hspgroup.org and hspersunite.org.au) in the top 5, and a few of the European groups a bit further down the list. The social media top 3 are Facebook, Blogger and Twitter,

Conclusions

My blog does get quite far around the world, but there are some corners of the world where there are people with HSP where I dont know how they get their information. I'd welcome websites/info if you know any other groups than these: http://hspjourney.blogspot.co.uk/2013/10/groups-around-world.html

A big thank you to all readers, wherever you are in the world!

Clinic Visit, Physio, Symptoms and Survey Update

Clinic Visit

Back at the end of September I went for an appointment at the HSP clinic at the National Hospital in London. This was very useful. We reviewed my symptoms and treatments, and made the following observations:

Gait 

The view was that my gait has improved since my previous clinic appointment (May 2014 - http://hspjourney.blogspot.co.uk/2014/05/hsp-clinic-visit.html). This was a bit of a surprise, since I've been noticing some general deterioration in my gait recently. We discussed that the improvement is probably because of my physio, stretches and wearing the insoles (my referral for these came from this visit), and actually they have helped me quite a bit - it was just that I didnt notice the initial improvements from this. My conclusion is that I dont have a dataset to measure this against.

We discussed spasticity medication briefly. There is no need for me to start taking this yet, and we'll review again next year. Generally, the first one to try is Baclofen, and I would start on a low dose, increasing gradually until we saw some benefit.

MRI

I've not had an MRI scan so far, and there is a request for this in the letter to my GP. An adventure for 2017 no doubt. I understand that an MRI scan can be used in the diagnosis in order to rule out other possibilities, but the MRI scan will provide a marker to see any deterioration in the spinal cord.

Everything else!

We talked briefly about fatigue - not a big problem at the moment, bladder control - no need to have a post-void residual (PVR) at the moment as my medication has helped with the urgency. If my problems return then it might be time to start self-catheterisation. PVR is measuring the amount of urine left in the bladder after having a wee - probably done with ultrasound. During 2016 my medication changed from Detrusitol to Neditol, but these have the same active ingredient - tolterodine. We also mentioned my AFO's briefly, but not my Pilates.

Conclusion:

I need to keep on with the stretches.

Physio

I also had another appointment with the physio as well - a new lady as my previous physiotherapist has retired. We went through my stretches and I got a few more tips to refine the ones I already do, and a couple of new things to try.

Cycling Monitoring

I've now moved into the world of monitoring my cycling. I have signed up to Strava and use my phone to track my cycling to and from work. My aim, over the long term, is to track any gradual changes in speed/time as a measure of change in spasticity. If anyone wishes to follow me, they're welcome to https://www.strava.com/athletes/18331670!

Survey Update

I'm now about half way through my survey collection, I've about 100 results, predominantly from the UK and USA. Thanks to those who have completed so far. If you can spare 15-20 mins I'd be very pleased for some more responses. http://hspjourney.blogspot.co.uk/2016/09/autumnal-survey-2016.html

I've people across the range of mobility. Looking at fatigue, there are responses across the scale, and I'll see how this varies with mobility.

Some answers not too surprising: fatigue affects many people's walking and ability to do things requiring physical effort. Many people are shattered by the end of the day, and many who over-do know about it the next day. There is a mild preference for the NFI-MS scale.

UK HSP 2016 AGM Presentations

Regular readers may have noted that instead of my usual reports from the UK HSP AGM I've posted from the international HSP/Ataxia meeting in Paris, which was on the same weekend. However, I'm also pleased to give details of the presentations given at the AGM. I've lifted these (with permission) from the UK HSP Newlink Newsletter.

Flexyfoot 

Georgie Powell represented this small company and its innovative products.

The main product is a no-slip ferrule for both sticks and crutches. It is a modern design with an easily (and inexpensively) replaceable "foot" which clicks into place. This foot anchors into the ferrule base which remains tightly fixed to the stick or crutch. This approach allows easy replacement of a worn foot. The company also produce and sell several ranges of sticks in both traditional and modern styles. https://www.flexyfoot.com/

Fully researched, designed and now approved by all the relevant certification bodies, Flexyfoot has a strong following in countries around the world. The current UK Health Service is a fragmented place to sell into and each health authority needs to be "sold to" individually. This cost too much time to be worthwhile - thus the company has concentrated its UK sales efforts towards the larger commercial outlets e.g. Boots. Such chains sell the products well, as do many independent mobility stores. The range of products is steadily increasing (more sizes and colours, differing stiffnesses.)

Plans are afoot to recruit staff in the larger foreign markets to promote/facilitate sales.

Coloplast 

Debra Gordon and Lauren Moore represented Coloplast and updated us on some of the products they provide to help with the continence issues that affect many people with HSP. They began by informing us that it was currently World Continence week.

They discussed catheters and catheterisation and surprised many present by how small their latest catheters are for females. The male catheter has to be a certain length in order to work properly.

 They discussed male incontinence and how it can be managed by using a conveen which is a clever system where a sheath is worn and urine flows down a tube which is attached to the sheath and fills up a bag which is usually worn on the lower leg. This system was demonstrated using their dummy who I believe is named Boris.

They also discussed their bowel irrigation system called Peristeen. This equipment allows the user to fill the bowel with water and after a short period of time, the bowel naturally empties itself and can consequently prevent much discomfort.

Further information on what Coloplast can offer can be found on their website: http://www.coloplast.co.uk

Odstock Medical

Dr Paul Taylor provided an update on the present status of the Odstock FES systems. http://www.odstockmedical.com/

The devices provide electrical stimulus to nerves. The nerves then activate muscles. In HSP the most common use is to activate the muscles which raise the foot during walking, thus preventing the foot from "dragging". To achieve this, two pads are attached to the lower leg, and a switch is placed below a heel within a shoe. Once correctly placed, these can be used together with a control unit to supply pulses which activate the muscles.

Smaller and lighter devices were now in use, some of which clip to the leg and contain the pads - this makes the time to set up each day less. The foot switched can now link to the control box wirelessly, which also makes the system easier to use and less obtrusive.

Enough HSP users had now been supplied with the equipment that some measurements were possible showing the effectiveness of the device for HSP specific use. As a general rule it seems that use of FES improved walking speed over a measured distance by about 10%. There was also a corresponding reduction in effort as measured by heart rate.

Some of the patients who get benefit from the device are not able to perform the daily set-up routine themselves due to other physical or mental conditions. A surgical procedure has been developed to implant the electrodes along the relevant nerve. This removes the need to position the pads correctly each day. For these users the devices produce similar benefits to the normal equipment. The cost of the procedure and its invasive nature makes it only appropriate for a small group of individuals.

Amber Meikle-Janney and skiing - "HSP can’t stop me!" 

Amber is now 17 and gave us a video presentation of the ways in which HSP has affected her and how she was developing her skiing skills despite the condition. Although there had been some indications of onset when she was younger, she had been able to develop a love of skiing on holidays. We were shown some short videos of her aged 6 on skis.

Since the condition started to affect her more, she started to look for ways in which she could continue to ski. She found information on-line about the charity Disability Snowsport UK and got in touch. They have helped her to learn how to ski in a seated position on a mono-ski. Time for more videos, this time of Amber as she was learning - lots of footage of crashes, eventually leading to some long runs!!

Amber, with some help from her Mum, then demonstrated her mono-ski by transferring onto it and showing how she can use it to get onto a ski-lift. This is something not for the fainthearted!

Research Update

I'm a member of the Research on Motor Neuron Disorders: PLS, HSP/SP, and ALS
Closed group on Facebook. This is a really good group which keeps posting relevant news and information about HSBC.

This post just gives links to some of the information posted recently. I've only posted links to general stories rather than specific HSP studies. Big thanks to Rita Handrich for setting the group up and posting such good stuff.

This report shows that regular stretching boosts cardiovascular fitness if you can't undertake exercise.
http://www.foxnews.com/health/2016/10/18/regular-stretching-may-boost-fitness-those-who-cant-exercise.html

This article describes using VR glasses to identify if people have a neurodegenerative disease (like HSP)
http://www.ltlmagazine.com/news-item/memory-care/augmented-reality-gives-researchers-new-view-neurodegenerative-diseases

This report talks about chronic pain being it's own neurodegenerative disease, noting that there is often no identifiable source.
http://www.ems1.com/opioids/articles/132786048-Why-chronic-pain-is-a-neurodegenerative-disease/

These are some non medicinal techniques you can use to control pain
http://www.health.harvard.edu/pain/6-ways-to-use-your-mind-to-control-pain?utm_source=delivra&utm_medium=email&utm_campaign=GB201601005-Pain&utm_id=268237&dlv-ga-memberid=24603361&mid=24603361&ml=268237

This site reports a touchless catheter, which might be useful for some:
http://www.news-medical.net/news/20161007/Adapta-Medical-receives-FDA-market-clearance-for-touchless-urinary-catheter.aspx

This article talks about care giving, but you need to subscribe to see the full thing.
https://www.scientificamerican.com/article/caregiving-stress-and-beauty-shots-of-the-brain/

This report indicates a link between weight and cognitive function - the higher your BMI, the higher your inflammation, leading to cognitive decline. Key message is maintain your weight to keep your brain on good form.
http://www.medicalnewstoday.com/releases/313570.php

Hidden Costs of Rare Diseases - new report

Regular readers may remember me attending a drug re-purposing conference back in Feb this year

(reported here: http://hspjourney.blogspot.co.uk/2016/04/my-views-on-drug-repurposing-conference.html)

The item that caught my attention was the presentation about the hidden costs of rare diseases. I spotted the other day that Genetic Alliance have published a report on this very topic. The report is here: https://www.geneticalliance.org.uk/media/2502/hidden-costs-full-report_21916-v2-1.pdf, linked from here https://www.geneticalliance.org.uk/news-events/news/hidden-costs-report/.

The report has some main findings:

• Receiving coordinated care is important for rare disease patients, yet remains a challenge,
• The full costs and benefits associated with different models of care for rare disease patients are unknown 
• Patients and families face significant (‘hidden’) costs (both financial and psychosocial) associated with the way that their care is managed
• There are significant limitations associated with existing data sets for rare diseases 

Whilst this is reported as being a feasibility study, within the report they have talked to various patients and carers, and there are some good observations on the difficulties which patients find, and they set out proposals for further research. They do identify and summarise these costs associated with rare diseases, which are very similar to those I heard in Feburary:

Financial:
Costs associated with appointments: Time off work and reduced income; childcare; travel including petrol, public transport and taxis; parking; food and refreshments; accommodation; sundries; accessible vehicles and transport options.

Other financial costs associated with wider condition management: Private healthcare; childcare and respite; specialist activities and equipment; IT, internet and telephone costs (including paper and printing cost); prescriptions; fees for informal helpers and carers; disruption to employment and income.

Other:
Time: Time off work; time spent coordinating (‘project managing’) care and the various agencies and appointments involved; time spent fighting to access care and support.

Psychosocial, health and well-being: Disruption to schooling, employment and personal time; impact on relationships and social life; isolation; impact on identity and sense of self; living with uncertainty; mental health; fatigue; confidence and self esteem; anxiety and stress associated with appointments. 

Wider family: Costs identified above related to patients, parents and grandparents; siblings and wider support networks.  

Symptoms Update - Walking

A couple of things about my walking.

Firstly, during my summer holidays I went, with family, up to the UK Lake District. We decided to do a bit of walking whilst we were there. I decided to use my AFO for these walks, and it worked really well. I was a bit worried that I'd be much slower than everyone else, and that my legs wouldn't be able to cope with it. But, actually, four year olds go quite slowly and so there was no problem at all. I really enjoyed it, and so did the family, and we made the decision to do more walking when back at home.

Secondly, it must be true that my gait is starting to be a bit different - a couple of people have asked me if I've got a limp/am 'hobbleing' - which I'm not really used to yet. One of my colleagues at work (who I've know for a long time, but don't see very often) said this about year ago, but in the last month there have been several people who have asked. I've got to work out what my 'standard' response is for this question.

I've an appointment with the HSP specialists in London this week, so that's something to talk about with them.

Finally, a quick note about my survey - I've had an excellent response so far with about 90 responses! I'd welcome any readers with HSP to complete this, if they have not done so already. You can find the link here: http://hspjourney.blogspot.co.uk/2016/09/autumnal-survey-2016.html

2016 Survey open

** Feb 28th - Results published: http://hspjourney.blogspot.co.uk/2017/02/2016-survey-results.html **

After the success of my previous surveys, and feedback from readers and others, I'm continuing the pattern with another survey this year.

My main focus for this survey is understanding fatigue, which many with HSP suffer from. I have selected 3 different short-form fatigue questionnaires, the 5 question Modified Fatigue Impact Scale (MFIS-5), the 9 question Neurological Fatigue Index (NFI-MS) and the 9 question Brief Fatigue Inventory (BFI). I will be interested to see which questionnaire people prefer.

I also ask questions on bladder and bowel issues using the  ICIQ-OAB questionnaire for over-active bladders and some of the questions from the ICIQ-B questionnaire for bowels. Bladder issues are well known, but whilst bowel issues are reported less frequently there still seem to be many who have them. Finally, I ask about how people find out information about HSP.

Following the previous pattern, I will collect results until early 2017, then analysing these in time to publish the results here on rare disease day, 28th Feb 2017.

Also like before, all questions are optional (apart from your name and country). If you have taken part in any of my surveys before, I'd appreciate you using the same name to allow tracking. This year, I am also collecting e-mail addresses to build up a list of people interested in taking part in these surveys in future years.

I would appreciate any readers with HSP to complete this survey:
http://www.surveygizmo.com/s3/3034453/ffafca058b23

Spatax Meeting - Poster Sessions Part 2

This post covers some of the posters shown which I thought warranted a little more detail. There are 4:

Full post index:
Overview: http://hspjourney.blogspot.co.uk/2016/06/international-meeting-on-spastic.html
Papers Day 1: http://hspjourney.blogspot.co.uk/2016/07/spatax-meet-papers-day-1.html
Papers Day 2a: http://hspjourney.blogspot.co.uk/2016/07/spatax-meeting-papers-day-2-part-1.html
Papers Day 2b: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-2-part-2.html
Papers Day 3: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-3.html
Posters 1: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-poster-sessions-part-1.html
Posters 2: http://hspjourney.blogspot.co.uk/2016/09/spatax-meeting-poster-sessions-part-2.html

Canadian HSP Population
Chrestian et al from Canada reported the Canadian experience of HSP. Their poster presented the analysis of 534 patients, of which 160 had a genetic diagnosis. They found that;

• SPG4 and SPG7 were associated with older age at symptom onset. 
• SPG4 and SPG3A were less associated with learning  difficulties compared with other types.
• SPG11 was strongly associated with progressive cognitive deficits.
• SPG3A was associated with better functional outcome compared with other types
• The strongest predictor for significant disability was abnormal MRI
• SPG4 associated with greater risk of bladder dysfunction
• SPG11 associated with increased pain due to HSP symptoms
• SPG2 associated with increased risk of speech delay
• SPG4 less likely to have motor delay

The poster also reported using the SPATAX-EUROSPA disability stage to assess disability. This scale can be seen here, in part E: https://spatax.files.wordpress.com/2013/09/fichecliniquespatax-eurospa-2011.pdf. The poster is based on this: http://www.neurology.org/content/86/16_Supplement/S43.005

Gait Training for Ataxia

Huisman et al from The Netherlands reported the effects of a five week c-mill training for patients with ataxia. They were testing if the gait in SCA patients and healthy controls can be improved by training on obstacle avoidance and dynamic stability. The patients had ten one hour sessions over 5 weeks, walking on a treadmill with visual cues and obstacles projected onto the belts surface. The difficulty was adjusted to patients capability. The training showed that healthy controls did not improve gait speed but the SCA patients did. 

I had a chat with some about this, who were saying that the patients found the gait training to be very difficult to do, but actually the improvements in gait stayed for some time after the training had finished. This study seems to reinforce the "use it or lose it"approach to muscles, demonstrating that with some hard work it is possible to improve gait.

Wearable Stabiliser for Ataxia

Leonardi et al from Italy reported a small trial using an Equistasi proprioceptive stabiliser. http://www.equistasi.com/en/equistasi/ on people with various types of ataxia who could walk alone or with minimal assistance. The device was worn for 3 weeks and showed improvement in gait without adverse effects. 

It is not clear how the device works, but it appears to generate localised vibrations on the skin which act as a feedback mechanism allowing the brain to modify muscle control. It is not clear how the system is set up to deliver the vibrations. The device is reported elsewhere for use in MS and Parkinsons, and I wonder if there may be applications for HSP.

Gait Patterns in HSP

Casali et al from Italy reported a study of 50 HSP patients, some with genetic diagnoses and others without. They identified 3 distinct gait patterns in patients which correlate robustly with clinical data. The poster showed that many different gait parameters were measured, however the parameters which define the groups are all to do with the range of joint movement in hips, knees and ankles.

Group 1 have a reduced ranges of angular motion for hips, knees and ankles (i.e the joints do not flex much). This group was most affected from a clinical perspective, had the most marked spasticity and walked at the slowest speed.

Group 2 had reduced ankle and knee ranges of angular motion, whereas the range of motion for hips was close to the control values.

Group 3 had an increased hip joint range of angles, with ankle and knee ranges of angular motion, close to the control values. This group was the least affected.

The study is reported as having the potential to help tailor treatments to individual needs.

The study seems to show that the progression of gait begins with increased movement of the hips. the next stage is that the angles of motion of all three joints are reduced, such that hips return to normal and knee and ankles are reduced. The final stage is a reduction (or further reduction?) in all joint ranges.

The poster also showed that progression through the groups leads to reduced walking speed, reduced swing duration, reduced cadence and reduced step length.

Spatax Meeting - Poster Sessions Part 1

This post covers part of the poster sessions. I've chosen to give a brief summary of posters which I found interesting. I will write another post which goes into some further detail about other posters. Obviously, I'm not going to mention my own poster - thats fully covered here: http://hspjourney.blogspot.co.uk/p/my-on-line-resarch.html

Full post index:

Overview: http://hspjourney.blogspot.co.uk/2016/06/international-meeting-on-spastic.html

Papers Day 1: http://hspjourney.blogspot.co.uk/2016/07/spatax-meet-papers-day-1.html

Papers Day 2a: http://hspjourney.blogspot.co.uk/2016/07/spatax-meeting-papers-day-2-part-1.html

Papers Day 2b: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-2-part-2.html

Papers Day 3: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-3.html

Posters 1: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-poster-sessions-part-1.html

Posters 2: http://hspjourney.blogspot.co.uk/2016/09/spatax-meeting-poster-sessions-part-2.html

Potential HSP treatment - Simvastin

Ylikallio, Auranen, Isohanni, Lonnqvist & Tyynismaa from Helsinki reported new mutations in HSP SPG5A / CYP7B1. This gene is known to encode an enzyme involved in cholesterol metabolism, with patients accumlating 27-OH-Cholesterol. One patient was treated with Simvastin, which reduced the 27-OH-Cholesterol  with no adverse effects.

HSP/ALS Overlap

Denora et al from Inserm, Paris report an overlap with HSP SPG11 and ALS. They report neuropathological overlap and some shared clinical features. This opens up new fields of investigation.

Disease Re-classification

Goizet, Mathis, Tazir, Couratier, Magy & Vallat from France/Algeria describe proposals for re-classifying Ataxias in a more understandable fashion, by mode of inheritance, gross phenotypic and genes/mutations. They also indicate this might be feasible for HSP.

Sobanska et al from Poland report that non-motor nerve tracts are affected in the brains of some patients with HSPs SPG3 and SPG4. They report the potential for finding additional symptoms in such patients with the use of more detailed neurological diagnostic tests. They question if the types of HSP should be divided into "pure" and "complicated" any more.

Balance training

Casali et al from Italy report the investigation of the relationship between trunk and thigh movements for people with Ataxia. They report that the drop in coordination between upper and lower body impairs dynamic balance, and this this should be a target for interventions. They propose the use of elastic suits.

Cakrt et al fom Prague report the use of a Brainport balance device (http://researchandhope.com/brainport/) with people with ataxia with cerebellar degeneration, and describe an improvement in postural control and 2 weeks of training.

Biomarkers

Vavla et al, from Italy report the use of neuroimaging in HSP and Ataxia identifying consistent structural and functional changes which correlate well with disease severity, with the potential for use as biomarkers. 

HSP populations 

Updates/reports on HSP populations around the world were given, with 79 patients from Greece reported as following the patterns of other European populations. 75 patients from Israel have been included in a new database. 746 patients with either Ataxia or HSP are included in a Norwegian database, and 35% of these have a molecular/genetic diagnosis.

Gene Panels

Several reports were given on the use of gene panels for HSP, 243 patients in Italy were tested with one of 2 panels of 126 or 200 genes, finding a match in 22%, and reporting some Ataxia/HSP overlaps. A group of 98 families in Portugal were screened with a panel of 70 genes, finding matches in 21%. A study looking at all 74 known HSP genes couldn't find a match in 36% of 283 HSP patients.

Spatax Meeting - Papers, Day 3

This is the fourth and final instalment of the papers presented, this time the third day. As previously, the papers were a mix of HSP and Ataxia papers, and I focused on paying most attention to the HSP papers.

The first of the sessions was on functional studies, with more focus on HSP than Ataxia.

Full post index:
Overview: http://hspjourney.blogspot.co.uk/2016/06/international-meeting-on-spastic.html
Papers Day 1: http://hspjourney.blogspot.co.uk/2016/07/spatax-meet-papers-day-1.html
Papers Day 2a: http://hspjourney.blogspot.co.uk/2016/07/spatax-meeting-papers-day-2-part-1.html
Papers Day 2b: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-2-part-2.html
Papers Day 3: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-3.html
Posters 1: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-poster-sessions-part-1.html
Posters 2: http://hspjourney.blogspot.co.uk/2016/09/spatax-meeting-poster-sessions-part-2.html

Evan Reid (http://www.cimr.cam.ac.uk/research/principal-investigators/principal-investigators-q-z/reid) talked about discovering some unifying mechanisms within HSP. He noted that that there are more than 50 genes affected by HSP, but there are a few common themes across these different genes, including cell membrane traffic. Evan noted that Spastin (the protein produced by the Spast gene, and affected by SPG4) has two different forms (or isoforms). There is some redundancy between these forms, but both need to be affected for HSP to show.

Tim Newton (http://www.cimr.cam.ac.uk/research/principal-investigators/principal-investigators-q-z/reid) talked about age of onset for HSP, noting that the HSP's with point mutations tend to have later onset than those with deletion mutations. He also reported that the effects of HSP were bigger when the deletions were larger, particularly if the deletion extended to the next gene along.

The second session focused on diagnostics.

Stefania Magri (https://www.researchgate.net/profile/Stefania_Magri) gave an overview of next generation sequencing (NGS) panels, noting the potential for mis-diagnosis, given that there are some overlaps between HSP and Ataxia, with the genetic test giving the opposite result to a clinical diagnosis in some cases. A joint HSP/Ataxia panel was suggested.

Sara Morais (https://www.researchgate.net/profile/Sara_Morais3) said that 40-60% of  families have unknown diagnoses. They checked 98 families against the most frequent HSP genes and identified the gene in 21 of these.

Lydie Burglen (https://www.researchgate.net/profile/Lydie_Burglen) reported similar information about testing for ataxias, indicating that a gene panel would only cover about 20% of diagnoses. 

As before, I realise that it is on a very different level to my normal posts. I know I've just used a lot of terms that I dont normally use, and I've just kept this post to the points which I perceived to be most important.

My key takeaway points from this session are:

• Gene panels - with the panels of the common genes still only covering some 20% of the tests, that leaves some 80% without a clear diagnosis. I perceive this to be important - particularly letting people know the likelihood of a match, and defining a process after this.
• The genetic mutations for HSP (and Ataxia) can vary in size, and potentially affect more than one gene, with potentially more than one consequence. 

The question which came through my mind at this time was: how do the dominant transmission cases start - its fair enough to note that they transmit from one generation to the next, but they must start somewhere.

Spatax Meeting - Papers, Day 2, part 2

This is the third instalment of the papers presented, this time the afternoon of the second day. As previously, the papers were a mix of HSP and Ataxia papers, and I focused on paying most attention to the HSP papers.

Full post index:
Overview: http://hspjourney.blogspot.co.uk/2016/06/international-meeting-on-spastic.html
Papers Day 1: http://hspjourney.blogspot.co.uk/2016/07/spatax-meet-papers-day-1.html
Papers Day 2a: http://hspjourney.blogspot.co.uk/2016/07/spatax-meeting-papers-day-2-part-1.html
Papers Day 2b: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-2-part-2.html
Papers Day 3: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-3.html
Posters 1: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-poster-sessions-part-1.html
Posters 2: http://hspjourney.blogspot.co.uk/2016/09/spatax-meeting-poster-sessions-part-2.html

The first of the afternoon sessions focused on therapeutic approaches, although all of the papers had an Ataxia spin.

Helene Puccio (http://www.igbmc.fr/Puccio/) described using computer gait analysis, and using it to investigate gene therapy in mice. One of the aspects they have been looking at is what happens if treatments are given after symptoms are showing - they conclude that if the treatment is given before the death of the neurons then it works.

Eleonora Di Gregorio (https://www.researchgate.net/profile/Eleonora_Di_Gregorio) talked about speech communication problems affecting quality of life - The symptom is dysarthria - and this occurs in some HSP's too.

The second of the afternoon sessions focused on therapeutic approaches with biomarkers, and again, most of the papers had an Ataxia spin.

Thorsten Schmidt (http://www.pppt-mjd.com/partner/thorsten-schmidt/) talked about some work involving re-purposing existing drugs for SCA3, and gave 2 examples - Riluzole and Citalopram, both of which were tested on mice - Riluzole was not found to give any benefits and Citalopram was. They are trying to get Citalopram into pre-clinical trials.

Benjamin Cravatt (https://www.scripps.edu/research/faculty/cravatt) similarly talked about drug re-purposing for HSP. He began by describing that some cell pathways for the spread of disease are known, but many are not. They are looking at potentially re purposing diabetes drugs for HSP.

In the discussions at the end of the session it was commented that patient numbers for studies are generally low, and there would be some benefit from regional/continental/worldwide patient registries. As there are overlaps between HSP and Ataxia it is good for the researchers to work together.

As before, I realise that it is on a very different level to my normal posts. I know I've just used a lot of terms that I dont normally use, and I've just kept this post to the points which I perceived to be most important.

Key takeaway points are:

• Treatments are unlikely to be effective if given after the death of neurons.
• Some are looking at drug re-purposing for HSP/Ataxia at the moment
• Several Ataxia symptoms and the way they feature are similar to HSP
• Researchers are looking for bigger/better patient registries

Spatax Meeting - Papers, Day 2, part 1

This is the second instalment of the papers presented, this time the morning of the second day. As per day 1, the papers were a mix of HSP and Ataxia papers, and I focused on paying most attention to the HSP papers.

Full post index:
Overview: http://hspjourney.blogspot.co.uk/2016/06/international-meeting-on-spastic.html
Papers Day 1: http://hspjourney.blogspot.co.uk/2016/07/spatax-meet-papers-day-1.html
Papers Day 2a: http://hspjourney.blogspot.co.uk/2016/07/spatax-meeting-papers-day-2-part-1.html
Papers Day 2b: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-2-part-2.html
Papers Day 3: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-3.html
Posters 1: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-poster-sessions-part-1.html
Posters 2: http://hspjourney.blogspot.co.uk/2016/09/spatax-meeting-poster-sessions-part-2.html

Day 2 was opened by Peter Bauer http://rd-neuromics.eu/contact/peter-bauer/. Peter talked about genetic sequencing and genetic testing using gene panels (i.e. a sample from a patient is tested against multiple specific genes for a match). He outlined that there are three main areas for problems in getting a genetic test, obtaining the sample, doing the preparation for sequencing, and in the interpretation of the results. The perfect genetic test would know about all possible variants and test for repeat expansions. There are guidelines for diagnostic testing: http://www.nature.com/ejhg/journal/v24/n1/full/ejhg2015226a.html. Asking predictive questions of tests can be tough when there is only limited data available - results can be ambiguous. There can be diagnostic gaps in the data - which would miss patients out who would otherwise get a diagnosis. Another issue is that such a test can show "incidental" findings - i.e. a gene is matched which was not part of the original search remit - consent is needed from the patient to find an report these findings. Peter indicated that 5-10% of rare disease patients have two different conditions. He also indicated that it would be a good idea for the Spatax network to work with the UK 100,000 genome project https://www.genomicsengland.co.uk/the-100000-genomes-project/.

There were a couple of people - Tzoulis Charalampos and Robert Roxburgh who talked about higher incidences of varying conditions in certain areas - Western Norway and Maori / Pacific Islands respectively - due to population bottlenecks in the past, also known as founder effects. Robert was talking about Canvas Syndrome - a type of Ataxia - noting that a chronic cough can be a symptom.

Rebecca Schule https://www.researchgate.net/profile/Rebecca_Schuele gave a really good overview of HSP. She indicated that the recessive HSP's have an age of onset around 1 decade earlier than the dominant types, and that there is some influence on the age of onset with the mutation type for certain HSP's. When looking at the severity of HSP, this is partially explained by the disease duration, but that only accounts for 10% of the range of severity. They have looked at how the Spastic Paraplegia Rating Scale varies with type of HSP in order to look at rate of change. They found that SPG4 progresses relatively slowly, with a change of 0.38 points per year, whereas SPG5 is faster at 0.74 points per year. You can find details here:http://www.hspersunite.org.au/rating-scale-devised-for-hsp/.  However, she noted that there are a load of factors which affect patients which are not assessed in the SPRS. For example, with a family there may be differences with the same mutation - perhaps a 30 year difference in the age of onset. One of the key questions is deciding when the disease starts. Another important factor is that day-to-day changes in mobility and other symptoms can be greater than the progression of the disease over a few years. There are lots of unknowns. New tools include biomarkers, gait paradigms and video gait analysis. SPG4 is a good candidate for looking at the effects of genetics and environment to understand more about the variation.

As last time, I realise that it is on a very different level to my normal posts. I know I've just used a lot of terms that I dont normally use, and I've just kept this post to the points which I perceived to be most important.

Key takeaway points are:

• Genetic test results can be ambiguous.
• Changes in health can be indicators of underlying problems - e.g. the chronic cough
• Day-to-day variation can be bigger than year-to-year progression

Spatax Meeting - Papers, Day 1

I had wondered how to present my observations from the conference, and my decision was to present by topic, chronologically - so this post covers the papers presented on the first day. The papers were a mix of HSP and Ataxia papers, and I focused on paying most attention to the HSP papers.

Full post index:
Overview: http://hspjourney.blogspot.co.uk/2016/06/international-meeting-on-spastic.html
Papers Day 1: http://hspjourney.blogspot.co.uk/2016/07/spatax-meet-papers-day-1.html
Papers Day 2a: http://hspjourney.blogspot.co.uk/2016/07/spatax-meeting-papers-day-2-part-1.html
Papers Day 2b: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-2-part-2.html
Papers Day 3: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-3.html
Posters 1: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-poster-sessions-part-1.html
Posters 2: http://hspjourney.blogspot.co.uk/2016/09/spatax-meeting-poster-sessions-part-2.html

The meeting was opened - Henry Wahlig (of the Tom Wahlig Foundation) indicated that the foundation is awarding a scholarship of €120,000 over 3 years for scientists who are opening up new therapies or treatments into HSP. Further info here: http://www.hsp-info.de/stiftung/foerderpreis/advanced_scholarship_2016.htm

The first speaker was Harry Orr http://www.pathology.umn.edu/bio/lab-med-and-pathology-faculty/harry-orr. Harry talked about SCA1 (Spinocerebellar ataxia type 1), noting that the longer the delay in treatment the less able cells are to recover function.  Harry also noted a course in molecular degeneration in 2017 near Cambridge https://registration.hinxton.wellcome.ac.uk/events/item.aspx?e=606

 Andrea Burgo http://www.univ-evry.fr/fr/recherche/les_laboratoires/laboratoire_structure_et_activite_des_biomolecules_normales_et_pathologiques/andrea_burgo.html talked about SPG4, noting that SPG4 accounts for up to 50% of the dominant cases of HSP and up to 15% of the sporadic cases. He observed that the stability and viability of neurons depends on intracellular transport, and that axonal swelling is often associated with axonal transport defects,

Harald Stenmark http://cancell.no/principal-investigators-pis/harald-stenmark/ indicated that SPG10 may no longer be considered an SPG.

Julien Branchu https://www.researchgate.net/profile/Julien_Branchu reported on research undertaken in SPG11. They are developing a mouse model of SPG11. This model is a "knockout" model, where the gene is made inactive. They observed that the mice developed gait problems similarly to patients, and they also had cognitive/brain and spinal cord impairments, which are also characteristic of SPG11. The model will allow them to understand more about the condition.

As I write this I realise that it is on a very different level to my normal posts. I know I've just used a lot of terms that I dont normally use, and I've just kept this post to the points which I perceived to be most important.

Key Takeaway points;

• The longer the delay in treatment the less effective it is
• Animal models can greatly help the understanding of diseases

One of the terms that cropped up a lot was Purkinje cells - thse are cells that in the cerebellum which are used in processes of motor control and learning. The cerebellum is the part of the brain which has plays an important role coordinating and regulating muscle activity http://www.healthline.com/human-body-maps/cerebellum. It is more difficult to find an accesible description of the Purkinje cells https://embryo.asu.edu/pages/purkinje-cells

International Meeting on Spastic Paraparesis and Ataxias - Overview

Last week I went to the International Meeting on Spastic Paraparesis and Ataxias organised by the Spatax network and the Ataxia Study Group. The meeting was held over 3 days and there is plenty for me to report on, and this topic will be the subject of my next few blog posts. This first post covers my general observations from the meeting, and I'll get onto specifics from the different presentations and posters in later posts.

Full post index:
Overview: http://hspjourney.blogspot.co.uk/2016/06/international-meeting-on-spastic.html
Papers Day 1: http://hspjourney.blogspot.co.uk/2016/07/spatax-meet-papers-day-1.html
Papers Day 2a: http://hspjourney.blogspot.co.uk/2016/07/spatax-meeting-papers-day-2-part-1.html
Papers Day 2b: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-2-part-2.html
Papers Day 3: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-papers-day-3.html
Posters 1: http://hspjourney.blogspot.co.uk/2016/08/spatax-meeting-poster-sessions-part-1.html
Posters 2: http://hspjourney.blogspot.co.uk/2016/09/spatax-meeting-poster-sessions-part-2.html

You can also read the spatax blog with plenty of pictures and details about the presentations and various goings on: https://spatax.wordpress.com/2016/06/22/follow-the-news-on-the-spataxasg-meeting-on-spastic-paraparesis-and-ataxias/

Before I get on to those things, a quick update on my survey to find out peoples thoughts on topics for my 2016 survey. The two clear leading topics are Fatigue and "Finding out information about HSP". I'd welcome any further comments and suggestions here, I am starting to work out my question strategy at the moment: http://www.surveygizmo.com/s3/2798869/88680a3a74e1

Back to Paris - Firstly some thanks are due. Thanks to the HSP support group for covering my expenses. My employer (Atkins: www.atkinsglobal.com) lets staff take 2 days a year leave to support charities, so thanks to them for giving me the time to attend. Thanks (obviously) to my wife for looking after the boys whilst I was out having fun for a few days!

Since I was going to be at the conference I took the decision to submit an abstract for a poster covering my survey results, which was accepted. You can see that on my research page http://hspjourney.blogspot.co.uk/p/my-on-line-resarch.html So, thanks are also due to the people who have answered my surveys the last 3 years. Therefore, I had three topics of conversation with people - My own HSP, the results of my surveys and being part of the UK HSP group. The meeting was attended by over 200 researchers and medical professionals, and I was very pleased to have the results of my surveys up in the room for them all to have a look at. I saw many people looking at it, and I engaged in conversations with a fair few of them!

The meeting was really friendly, and I felt quite at home there. The network of researchers feels really close knit, and I was pleased to see and hear about people chatting with each other and sharing their knowledge and findings. In many respect the coffee breaks, lunches and evening social events are just as important as the presentations as they allow people to go and share ideas.

I spotted that overall there were more posters and presentations on Ataxia than there were on HSP. There was also relatively few posters and presentations on treatment and/or relief of symptoms, although it was acknowledged at the end of a couple of presentations that research on treatments may be more prevalent in the next few years.

All of the presentations (also known as papers) and posters were in English, which I was quite relieved about. It wasnt until sitting there and listening that I realised how lucky I am to be able to think and speak in English, whereas the majority of people there (from 22 countries) and having to think in one language and speak in another. The standard of presentation was high, and language did not seem to be a barrier at all.

There was a wide range of papers presented, in all sorts of fields and I have yet to piece together how all of these wide and varied topics fit into the overall HSP picture. Topics included genetic identification, proteins, bio-markers, animal models, genetic testing, cell biology, diagnostics, muscles, clinical diagnosis, symptom identification, age of onset, disease severity etc. You can probably guess that this is the "agenda" for my next set of blog posts!

I spent some time talking with the people from Euro HSP who are keen for the UK group to join. This is quite the opposite to the EU referendum held in the UK on the first day of the meeting (and reported in the second day) which resulted in the beginning of the UK's EU exit.

I think that the various patient groups need to work together, and not just the HSP groups, but those groups for people with similar conditions - Ataxia, CMT, ALS and others. I'm going to explore this further. I found out that in New Zealand HSP is covered under the group for MS, there is no group for HSP in Turkey. Within Europe the national groups have different focuses, with some focusing on fund raising and other providing support. The ataxia groups I spoke to seem to be very similar to the HSP groups, which makes me think that working together should be easy, and in France this is already done.

Speaking to various people about my 2016 survey, suggested topics include physiotherapy/stretches, bowel issues and anxiety. A few people are also looking to set up surveys of their own in their own countries.

You can see a pic of me here, with my poster - it was the first one up!

A busy weekend - Three conferences

Next weekend is going to be a busy one.

On Sat 24th June is the UK HSP Support Group AGM http://www.hspgroup.org/index.php/meetings/68-agm-leamington-spa, however this is the first year in 4 that I wont be going. Instead, I'm off to the Spatax networks HSP and Ataxia conference in Paris https://spatax.wordpress.com/2015/07/20/next-international-meeting-on-spastic-paraparesis-and-ataxias-june-23-25-2016-paris/, to represent the HSP support group.

This is a combination of several things, my employer, Atkins, offers 2 voluntary days per employee per financial year, and so they are paying for my time to be there. The HSP support group is covering my conference, travel and accommodation costs. I'll simply be reporting back on what I find out.

I looked at the programme for the conference, and they were accepting abstracts for poster sessions. I put an abstract together covering my three on-line surveys which was accepted. So, for the last week or so I've been busy pulling together a poster which summarises the results of the surveys, which will be up for the worlds leading HSP researchers to have a look at.

I'll share the poster here when it is finished!

20th June Update - link to finished poster https://drive.google.com/file/d/0BzEoTkR5HCWhNzllZWZWR05qWk0/view
Note. Some browsers dont seem to like this file, but you should be able to download and view in acrobat v8 or v9.
A larger but more compatible file is here: https://drive.google.com/file/d/0BzEoTkR5HCWhTklWZFNDWGlSYlU/view

If that wasn't enough, there is also a findacure event "How Rare Disease Patient Groups Can Work With Researchers" in the afternoon in London https://www.eventbrite.co.uk/e/how-rare-disease-patient-groups-can-work-with-researchers-workshop-tickets-25054044321

So, thats three interesting and relevant meetings which could be gone to - obviously I've very excited to be going to Paris, sharing my findings and finding out about what else is happening in the world of HSP. I'm hoping to be able to tweet from the conference.

If any readers have any topics they particularly want me to find out about, then post a comment, and I'll do my best to find out.

Collecting Ideas for 2016 Survey

Hello everyone,

I'm starting to think about what to cover in my autumn survey this year. I've got a short survey which I'd welcome anyone to complete if they've got any thoughts.

http://www.surveygizmo.com/s3/2798869/88680a3a74e1

Time-scale wise, I'm getting my thoughts together over the summer to launch in ~September.

AFO - Ankle Foot Orthosis

Some weeks ago I had a joint appointment with my physiotherapist and my orthotist. Conversations with each individually had been questioning if it was right for me to get an AFO (ankle foot orthosis), but also suggesting that I talk to the other specialist. So, the easiest thing was get them both together and discuss this openly.

They both watched me walk and the conclusion was that I am right on the borderline for needing them. My left leg is a bit tighter than my right leg, and we agreed that I would start by getting one AFO for my left foot.

I find that walking is more challenging when one (or more) of the following is/are true:

• Tired
• Stressed
• In a hurry
• With an awkward load
• After a few drinks

Therefore, I'm generally fine in the mornings, but things do deteriorate as the day progresses, especially if several of those points are ticked off. (You can draw your own conclusions about my 4-year and 7-year old "awkward loads", actually it is mainly their baggage rather than them!)

I decided that I would wear the AFO in the evenings (when going out) or when I was expecting to be suffering from several of those points at the same time. The order was placed there and then.

Last week I picked up my own Helix AFO http://www.orthoticcomposites.com/helix-afo/ (left, large).  This is a carbon fibre AFO. Reasons for choosing a carbon fibre one as that I still have lots of power in my muscles and the flexibility in the carbon fibre allows me to use some of that power whilst walking - it allows me to be dynamic, rather than just holding the foot in a fixed position. Having a flat surface means that I can use the AFO in combination with my insole(s). The general advice from my orthotist on collection:

• Build up the use gradually from day-to-day, starting with a couple days at half an hour, then ramping up over a week.
• Stop wearing it if it rubs.
• The weakest point is the join between the foot plate and the strut, so avoid big ankle bends!

I asked how long it would last - she said that someone wearing them full time might expect a couple of years use, but that is dependent on how mobile they are. As I'm only planning to wear mine in the evenings occasionally, I'll speculate ~6 years expectancy.

Yesterday, one of my colleagues retired from work, and there was a celebratory social gathering in town in the evening - a perfect opportunity to try out the AFO. It worked really well, I'm fairly sure that there was less scuffing of my toes as I walked to and from the bus stop/pub. Obviously I need to try this a few more times and see how things develop, but I did feel good not having to worry too much about my feet scuffing. It makes me realise that all those subtle small changes do add up over time. Conclusion - I expect that I'll end up with 2 of these at some point!

Although the AFO is quite discreet, I walked past my barbers on the way to bus stop, and he noticed it through my trousers, but then he has an inch and a half block in one shoe to equal his legs out. No-one said anything when I was in the pub. However, I must trim the strap so that it is a bit less bulky. (My boys are not sure if the AFO now makes me a cyborg or not....) 

p.s. I must apologise to my orthotist - I just went for broke and used the AFO all evening, about 6 hours, without all the gradual use build up - I did a short build up on the day I got them and then no more. 

What does it look like? - Here are some pictures....

With the insole....

In a shoe.....

Re (act) community

April was a busy month, not only did I get the write-up done for the Drug Re-purposing conference, I also found out about more HSP communities, which I describe one of here, the Re(Act) Community: http://react-community.org/diseases/606

This community aims connect researchers and ideas through cooperation and collaboration and promoting scientific projects through crowdfunding. They aim to be a game changer, spreading the voice about the urgency of investing in rare and orphan disease research. They believe that everyone can contribute to support scientific research and the community is open to researchers and to interested patients and other people. I saw this on twitter and spotted quickly that HSP is one of the rare diseases included.

I signed up and became the second follower of HSP. The site needed 15 followers in order to "unlock" HSP, so with a bit of twitter, Facebook and LinkedIn action I found enough interested people to unlock HSP - and thanks to all those who signed up!

Now that HSP is unlocked interested researchers can submit their proposals, and we can test the crowd funding side of the site. 

Readers are welcome to join in and support, as a patient or just as a follower. You will need to:

• Register with the site
• Go to HSP
• Support/follow it

There is no commitment from you to do anything! You can choose to get notifications or not from the site.

If there are any researchers reading, you are also welcome to join in. Researchers are able to submit projects, which are screened by the sites Scientific Advisory Board.

On the crowd funding side of things the website seems only to have one project up and running at the moment, so it is in its early days. People can donate money in if they wish (the site takes 10% of donations to cover costs), and people can donate money to HSP specific projects if they wish.

I note that not only is the umbrella HSP term there, each of the SPG variants is listed separately. This comes because the site gets its list of rare diseases from a database which includes both the umbrella term and the specific SPG variants. I decided to also follow some of the SPG variants, other similar conditions as HSP (including ALS, PLS, CMT, Friedrich's Ataxia) and rare conditions of others I know (including MD, Turners Syndrome, Ehlers Danloss), and some of the more common hearing ones (including Meniere Disease, Alport Syndrome, Vestibular schwannoma).

You can follow the site here:
https://www.facebook.com/REACT.community.official
https://twitter.com/react_community?lang=en-gb
The site is set up and run by:
http://www.blackswanfoundation.ch/

In summary, I was very pleased to be able to get enough people interested in this in order to unlock HSP, and in fact that is now the condition in 4th place, follower wise, on the site, whereas at the beginning of April there was, like many other diseases, just one follower. I'm pleased to have gotten another potential research channel unlocked, but actually getting researchers to get involved might be a bit more of a challenge, though!

My Views on Drug Repurposing Conference

So, the last 3 posts have reported what I heard at the conference, and I thought it appropriate to reflect on this and record my views on what I heard.

Hidden Costs

I think that the most powerful thing was the "hidden costs of rare diseases" from Matt Hammond:

• Psychological

• Time (travelling, seeing professionals etc.)

• Finance (travelling)

• Missing out (on other activities and events)

• Form filling (it seems there a lot of forms in some cases)

• Loneliness (being the only one in your situation)

• The need to plan everything (because of the effects of the disease) 

Matts story was very powerful, and you could feel everyone in the room being affected by the emotional roller-coaster he described. It made me realise the benefits of having a quick and certain diagnosis, and I'm quite pleased I dont have all that uncertainty and delay in getting one.

Drug Repurposing

In terms of drug repurposing, I understand the process that is gone through. I hadn't realised quite the extent of drug re-purposing, and this is done because repurposing is cheaper, quicker and less risky. Although, there doesn't appear to be quite the same incentive to do this as there is for developing a new drug. The main thing to take away is the need to collaborate, most of the papers described that collaboration was needed between the different people involved in the chain. There are several steps:

1) Identify a need.

Firstly, it is necessary to define a need for a new drug. This is where the collaboration between patients, patient groups and clinicians is important. There needs to be sufficient interest in an issue for researchers to look at it, and this is where patient groups can come in very useful by keeping on top of research activities and knowing about patients with condition to (potentially) have a sample of real-world patients who are interested in taking part in research trials.

2) Look for solutions.

With a need in mind it becomes necessary for researchers/clinicians to look for solutions to the need. Several different approaches were described. At one end of the scale the knowledge of the clinician about the need can be used to look through existing information to identify candidates. At the other end of the scale computers are used to search through database libraries of molecules/drugs for candidates. It is a positive that the drug companies/pharma are getting involved with sharing their libraries of molecules/drugs with researchers. 

3) Gathering evidence.

The candidate drugs/molecules then have to be examined to ensure that they are safe and if so, tests and investigations can be made to identify the ones with the greatest potential. If the evidence does not demonstrate improvements in patients then it is necessary to set up a trial.

4) Trials.

Often a trial is needed in order to provide evidence that the drug is safe to use and gives results. Sometimes there will need to be a balance struck between improvements gained and negative side effects. Depending on funding and other constraints the trial may be large or small. Once successful trials are reported, this informs the medical community and the treatment can spread. Issues with trials revolve around getting the right population of patients to take part and their distance from the research centre. Sometimes it is a combination of therapies which gives good results.

Data Sources

I was interested to hear about the different work on data sources, with different tools extracting information from papers in order to allow them to be searched in a database. Two different examples were given, and I particularly like the healx one: https://rareomics.healx.io/disease/spastic-paraplegia-hereditary .

Sharing Results

One thing which came up a few times in presentations was about how it is generally only successful trials which are published/publicised. In terms of drug repurposing it is perhaps useful to see unsuccessful trial results to allow the safety/function of drugs to be evaluated for other purposes.

Funding

Naturally, researchers need to be paid to work, and there is the issue of funding for such work. There is not the same commercial drivers for funding as there are for new drug discoveries, and that is another aspect where collaboration is needed. Often, the patient groups raise money and provide funding, and often deals can be done with the drug manufacturers to get the drugs needed and information about them for trials at a reasonable price (or free). Various research organisations and drug companies are joining forces to be able to run/organise/fund research projects.

Student Essay Competition

One other thing which I felt was really good was the student essay competition. At the conference the awards were presented. You can see about this, and download the essays on the findacure website. http://www.findacure.org.uk/category/news/page/2/ As I write this is on page 2 of their news, but I suspect that will soon enough drop to a later page. Interesting stuff!

Summary

In conclusion I found the day really useful, and thanks to the UK HSP support group for paying for my ticket! There were also lots of interesting people to talk to in the coffee breaks and it was good to find out more about what happens. Many of the companies present at the event were based in Cambridge, which is my home town! I think that the role of patient groups in understanding what research is being done and sharing that information with their members is important, as is feeding back real world experience/problems to the researchers so they can potentially capture some of this in their research design. Social media seems to be a very important resource for promoting and sharing information, and I'm pleased to report what I heard and saw in order to share this information with you.