There are about 7 papers involving mRNA and gene therapy for a number of forms of Ataxia in the last year. Some exciting stuff. I’ll post them a bit later. But for now hwere is a great Interview well worth reading and full of hope (that and I Know this guy): https://healthcare.utah.edu/the-scope/shows.php?shows=1_n9ardvj6
This may be of particular interest to those who are diagnosed with SCA2, and ALS.
There is also mention of SCA4
Thankyou from the bottom of my heart, to think that some progress is being made against a disease which investigation I believed had come to a had come to a standstill three cheers for Doctor Pulst. I hope more information will be forthcoming. There are numerous SCA,s so progress will be slow but here is hoping, for my children if not me. Any UK trials? Peter Ashbourne England
Well interesting that you should ask, Peter! Behind the scenes at Ben’s Friends, we are working on a way to connect our members with clinical trial opportunities near them.
We know that our members (and that includes me!*) really want to give back, and they want to feel that their suffering might contribute to the greater good. Our registry project (which still needs a name) will allow our members to find opportunities to do that in a way that is discreet and controlled by the member (and not by some commercial interest). And the process will be organizationally separate from our communities so that no connection can be made between what you say anonymously online here, and your volunteering for research opportunities.
We’re excited about this! Stay tuned.
- My give-back participation is going to a research clinic relatively far away, once a year, where they monitor and measure my disease (blood work, x-rays, questionnaires, physical measurements) for their data. In return, I get a second opinion on my condition, and world-class experts’ brains on my case. Expensive for me (transportation, hotel, meals) but priceless!
Peter, as well as keeping in touch with your Neurologist, you can log onto www.clinicaltrials.gov to monitor any trials for ataxia.
Beryl, as a main contributor to help us ataxians thankyou .Are you an ataxian yourself? I am attempting to make a further appointment to see a genetic counsellor. I saw a counsellor when I was first diagnosed and again when my son took the test it was like a bombshell when he was positive. It has brought it all back to the surface, perhaps the same with yourself? I want to believe there is hope, but I am a boring pragmatic. Many thanks again Peter
It has worked two ways for me, it has opened old wounds, when I was diagnosed and when my son was tested positive(the worst day) and the hope that a few bricks have been removed from the solid wall which has been facing us all. We would all want to do something to keep things moving forward. I have just been medically dismissed from my last job as a cashier, boy has the walls fallen down for me. Never mind, do you need volunteers to help? I am considering my options I still have a lot to give. Peter
Yes, I am a fellow Ataxian… I haven’t been referred to a Genetic Counsellor because although there has been testing, as yet I’m not diagnosed with a specific type of ataxia.
At this year’s National Ataxia Foundation Conference, an eminent Neurologist said she was confident there would be treatments for ataxia within the next five years.
Research is ongoing, and we are encouraged to participate in clinical trials if at all possible.
You can find these links on www.ataxia.org.uk…click on Ataxia Research
For People with Cerebellar Ataxia
Taking part in research as patients in trials is a wonderful way to get us ever closer to finding a cure. Listed below are some current research projects recruiting for patients with cerebellar ataxia.
PRO gression chart of SPA stic ata X ias (PROSPAX) project
European Spinocerebellar ataxia type 3 (SCA3) project
European study on spinocerebellar ataxias registry and natural history study
ARSACS Optical Coherence Tomography (OCT) study
What country are you in? I have learnt from replies that access to medical services are largely restricted to those who have against those who don’t. There nay be many ataxians who have no access to the web site to find support. I am lucky I am in the uk and am with a professor a specialist. But keep facing the brick wall being diagnosed with an SCA that is so rare, nobody is going to investigate unless there is some benefit at the end. The latest news about Dr Pulst is fantastic. I and all ataxians need hope. May I keep your contact, are you art of the ataxia uk web site? Peter You are doing a fantastic job keep it up.
I’m also in the UK, Peter. I’m a member of AtaxiaUK, Healthunlocked AtaxiaUK, and several Facebook Ataxia Support Groups. I live in Newcastle, and have also been seen at Queen Square in London, although not by the person you mention.
Just this morning I saw info re trials of plasma infusion for some of the Ataxias (this already takes place for some specific Ataxias), you can read about this on www.clinicaltrials.gov…
Search for Ataxia and Plasma.
You are truly wonderful, unfortunately for me I am dyslexic and couldn’t find the study you referred to, or rather did not know how to fill in the search engine to find it. Would you not be eligible to go and see professor Mario at the Ataxia Specialist at Sheffield., there are only 2 Oxford and Sheffield. I was like you Ataxia unknown until Mario did his investigations could you get referred to Mario, he is a truly wonderful Man. I have details if you are interested? Peter
I did not mean to be condescending of course you knew about the specialist centres. I wish you and your family well. I am very proud to have made contact with the Queen!!! You give us all hope through the latest information. Peter Ill keep this email contact. I am always here to help in any way.
Clearly, Ashbourne4U, you have a lot left to give! Like most members of Ben’s Friends (our umbrella organization) we refuse to be defined by our disease, but at the same time we need help dealing with it from an emotional/social point of view.
We always need volunteers! The first thing to do it to get very active on your community so that you gain a deep and wide understanding of what it means to be a member of a rare disease group.
Do your best to learn how our amazing software works. It looks very opaque when you start, but the things it can do are amazing. Although we have user help (Under "New User Help) it doesn’t come with a user manual, because the designers believe that experimentation and experience are the best teachers. You just have to try lots and lots of clicking on things. For instance, click on a fellow member’s avatar – Beryl’s pic, or for some, the butterfly – and up comes additional information about about them, including where they live.
Once you are familiar with the basics of how our websites work, and how a well-run community like this one functions, you’ll see where we can use your help.
Thanks for asking!
Happy and healthy holiday and a better new year, Peter
Merry Christmas Peter and best wishes for a Happy 2022
I did not know how to use use the web site and only found your message a few seconds ago, I am dyslexic and find these sites and other things more difficult. Have a good 2022!!! This new drug trivule is it good news? I have SCA14. very nice to hear from you, it gives me a lift. Peter
Hi Peter It’s good to hear from you
If you are able to click on the link, you will be able to read that both Dr Scwahmann and Dr Perlman (both eminent Neurologists)…have said that testing the drug proved Troriluzole is primarily most helpful for people diagnosed with SCA3. The reason being…among the Ataxias SCA3 is particularly difficult to treat, and tests showed Troriluzole to be of some benefit.
I’m sorry you have such difficulty using your computer, from what I know about Dyslexia this can range from brightness of the screen to numerous other problems. You’re probably well aware of where helpful information can be found, but just in case I’ll give this link …
Don’t hesitate to make contact If we can help in anyway