JTSMA Research Page

An Introduction and Index to our pages on research into SMA

Introduction Since the Jennifer Trust was founded in 1985 it has always been a support group for families with Spinal Muscular Atrophy. In order to provide the best support possible the Trust has, for some time now, also been providing some of the funding for research work into the genetics of Spinal Muscular Atrophy in the hope that better knowlege will provide improved treatment of the condition; this work has already resulted in pre-natal testing for the genes responsible and is going some way towards an understanding of the varying severity of their effect.

The Jennifer Trust also provides funds for research into the most suitable medical and therapeutic treatment for people with Spinal Muscular Atrophy. Successful applications to the Trust include a project to analyse the effects of seating posture on spinal deformation, and a project to ascertain the benefits from various respiratory equipment for people with SMA.

The benefits of this research are greatly improved by getting the professionals, whose daily work is to treat people with Spinal Muscular Atrophy, together to discuss the findings and their experiences. The Trust, therefore, organises conferences to disseminate information and provide a forum for this discussion. The Annual Conference provides an open meeting at which an update on the genetic research is provided, a speaker gives a talk on some clinical aspect of SMA, and families with SMA are able to share their hard earned knowlege in both a formal and informal environment. The Jennifer Trust also organises an ongoing series of conferences for clinicians to establish the basis of good practice in treating the respiratory aspects of SMA, and in 2001 the Trust will be hosting an international conference for support groups in Stratford upon Avon.

The Jennifer Trust is only able to support these projects through the efforts of our fundraisers . . . thank you all, the money being raised is working very hard!

If you would like to help fund this research and the other work of the Trust CLICK HERE.

Index to pages As we publish articles they will be added to this index. Each page on this site has a link at the bottom to bring you back here.

10th December 2001

More Sodium Butyrate research news
We are delighted to share good news with you regarding a research breakthrough in Taiwan. This involves a chemical compound called Sodium Butyrate. Each piece of news brings us ever nearer answers to SMA. However we must always be realistic about what such information means. You may see both on the Internet and elsewhere grand claims about cures and radical treatment for all sorts of conditions, not just Spinal Muscular Atrophy. Often these claims are unfounded.
So what does this mean for sodium butyrate?
We do not know yet how effective it may be in treating SMA. The big word of caution is PLEASE DO NOT ATTEMPT TO GIVE THIS CHEMICAL TO YOUR CHILD OR ADMINISTER IT TO YOURSELF, IF YOU HAVE SMA, without being on a controlled clinical trial.
There are several reasons for this:-
- The dose you need is very high
- A lot is still not known about its safety in children
- Very little is known about drug or nutritional interaction
- Efficacy has not been established in animal models
- Sodium butyrate is known to affect other genes
- There is no clinical data to date to show that this compound is effective
Drug Trials
A small controlled Phase I trial will soon be taking place. Phase I trials means that the researchers only look to see if the drug is safe (or toxic) in humans and to ensure its efficacy. Please, before taking any action, contact us at the office here at Jennifer Trust 01789 267520 - I am always happy to talk to any of our families!
As always we will get any further news to you as soon as possible. Please can I also request that you do not bombard scientists or doctors asking about this therapy - their time is so precious and every minute spent on a phone or answering an email is a minute that they aren't able to work towards further answers for us!
- Link to pages on this subject by Chris Spancake, Ph.D.
  Chris is research Director for Families of SMA in America.
- Questions and answers on this subject at FSMA.
- The Development of Drug Treatments for SMA - Where are we?
  By Arthur Burghes, Ph.D. . . . again on the FSMA site.
Take care and lets hope there is much more good news in 2002!

Anita Macaulay Executive Director

23rd October 2001

Sodium Butyrate update info on FSMA site.

25th May 2001

Message from Audrey Lewis of FSMA (USA):

There is more good news in research into SMA. Scientists at the University of Pennsylvania have found evidence in cell cultures that 2 vitamins may lessen some of effects of SMA. These 2 vitamins are B12 and Folic Acid. These tests were done in the lab in cell lines and have not been tested yet in humans. Researchers emphasize that this is not a cure for SMA, but it may help. Further investigations will proceed very soon.

The entire press release and a discussion of the implications of these findings (as well as other research news) can be found on our web site.

7th February 2001

Call for volunteers in Creatine research from Mark Cheetham of Wolverhampton University.

30th January 2001

Stem Cell transplantation article from Orest Hurko of the Muscular Dystrophy Campaign in Cambridge, UK.

Link to a page on BBC News online (Should open a new window), which gives information about an exciting development by researchers working in the USA. As you will see on reading the article, this work may have significant implications for people with SMA in the future.
Whilst this is exciting news we do appreciate that there is some emotive publicity around at the moment regarding the use of stem cells. The JTSMA policy is to provide information on all relevant issues and non judgmental support to all who live with SMA.
If you have any queries please do not hesitate to contact Anita at the office in Stratford upon Avon.
(If you wonder how far the Jennifer Trust's influence can reach even the UK Parliamentary Procedings in Hansard for 17th November 2000 carry a reference to the JTSMA on this subject!)
"Researchers Announce Breakthrough Discovery ... January 31, 2000" Very exciting press release from the FSMA in the USA.
"An overview of Spinal Muscular Atrophy", by Jenny Versnel.
"Toddling Into Language", by Jechil S. Sieratzki and Bencie Woll.
"Molecular Basis of Leading Genetic Cause of Infant Death Discovered". A newly published press release on the Families of SMA site in America (Should open a new window).
"Genetic Studies in Distal Spinal Muscular Atrophy". A description of new research being undertaken with a call for volunteer families to help as research subjects.