Posted - December 2016 in Living with HSP - Management & Treatment News
Focus on fatigue
UK HSPer Adam Lawrence launches 2016 on-line survey for people with HSP
I am pleased to announce the launch of the 2016 on-line survey for people with HSP. The main focus for this survey is understanding fatigue, which many with HSP experience. 3 different short-form fatigue questionnaires are offered, and I will be interested to see which people prefer. There are questions on bladder and bowel issues. Bladder issues are well known, but whilst bowel issues are reported less frequently there still seem to be many who have them. Finally, there are questions about how people find out information about HSP.
As with previous years, results will be collected until early 2017, then analysing these in time to publish the results on my blog on Rare Disease day, 28th Feb 2017. 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 welcome anyone with HSP to complete the survey.
International Meeting on Spastic Paraparesis and Ataxias
Here is a summary of 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 in Paris in June 2016. I have gone into more detail on my blog than I have in this column, so readers are welcome to go and see more there: http://hspjourney.blogspot.co.uk/2016/06/international-meeting-on-spastic.html
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 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 also 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.
International HSP Meeting – key thoughts:
Anyone can read further details on who said what on my blog.
The knowledge of HSP increases. The day-to-day variation in symptoms for an individual can be significantly greater than the year-to-year progression of HSP. One group identified potential biomarkers for HSP, which correlate well with disease severity, and another group report the progression of changes in gait with progression of HSP. There were several papers looking at how the different types of HSP have different ages of onset, different levels of severity and different symptoms. The genetic mutations for HSP can vary in size, and potentially affect more than one gene, with potentially more than one consequence.
Several researchers talked about genetic testing, with some noting that test results can be ambiguous. Whilst the number of genetic tests for HSP grows they still only cover about 20% of cases, leaving some 80% without a clear 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 and report these findings.
Researchers are looking for bigger/better patient registries. There are genetic and clinical overlaps between Ataxia, HSP and ALS, as well as other conditions, with symptoms and the way they feature being common between conditions. Working together and sharing data helps. Some are calling for the usual ‘pure’/’complex’ classification of HSP to be revised. Overall, some 5-10% of rare disease patients have two different conditions. Changes in health can be indicators of underlying problems, for example a chronic cough.
In terms of new treatments, one study reported the use of Simvastin for one patient with SPG5A. This reduced a specific type of cholesterol encoded by the affected gene.
Treatments are more effective the earlier they are given. Various drugs and therapies were mentioned, but the overall message was that if these are given after the symptoms are severe there is less chance of recovery, particularly if the nerve cells have died. Some researchers are looking at repurposing existing drugs for HSP.
Several groups reported balance training, gait training and the use of wearable “stabilisers” for patients with Ataxia. I don’t know if such approaches would also work for HSP. It’s an avenue for someone to research. It was said that the gait training was found by the participants to be difficult to do, but showed good results. This ties in with the “use it or lose it” slogan.
Several researchers use and talked about animal models of HSP. Whist I accept that this could be considered controversial; these models do greatly help the understanding of diseases.