Research Developments

~ The Harvard Neuromuscular Disease Project ~

Research into CNM / MTM is done by The Harvard Neuromuscular Disease Project. While examining the muscle tissue of affected patients is an important part of their research, donating a muscle sample is NOT required of participants; they never ask participants to have a biopsy for the sole purpose of their research. Participation is completely voluntary and can be withdrawn by you at any time, so you never have to do anything that you do not want to do and although a blood draw is the conventional and preferred method by which to obtain DNA, this research laboratory allows it participants the option of donating saliva for DNA analysis. By testing saliva rather than blood, patients are able to take their own samples at home. Both my father and I have taken part in the research project and can report that it is easy and painless - easy to follow instructions are provided and all postage costs are paid.

The doctors affiliated with Harvard Medical School are now considered the store house for information and research on CNM / MTM in the USA. They have over 300 people with different congenital myopathies involved in their research and more than 40 of those have CNM / MTM.

CNM / MTM is a very rare condition; to put this into perspective, Duchenne Muscular Dystrophy affects about 1 / 3500 male births or 1 in 7000 children born. In contrast, MTM and CNM are so rare that there are not good estimates of their incidence, a guess-timate would be somewhere in the range of 1 in 50,000 to 1 in 500,000, which makes it harder to study due to less financial support and fewer patients. Therefore, despite the challenge of trying to find participants with MTM and CNM, the more patients that can be found to be involved, the more likely researchers are to make progress. Although participation may not result in any direct benefit to the participant, it will help to pave the way to a time when treatment may be possible.

You can participate in the Harvard Neuromuscular Disease Project here.

~ University of Chicago Clinical Genetic Testing ~

The University of Chicago (UC) does clinical testing for the MTM1 gene, which causes the X-linked form of MTM. A patient can send a blood sample to UC for clinical testing on MTM1. If that comes back negative (no mutation found), then they can enroll on the research programme in the hope that a gene that is the cause of the disease is found in the future. There IS a charge generated for any clinical testing in the USA and a report from the lab is generated to document if they did or did not find a mutation in the MTM1 gene.

There are definitely other genes involved in MTM / CNM that are yet to be found, however, myotubularin is the only gene that has been identified so far. Research being undertaken both at Boston and Chicago is therefore extremely important if a cure is to be found.

Research Developments from the Joshua Frase Foundation

~ Hammersmith Hospital Research ~

Here in the UK Professor Francsco Muntoni at the Hammersmith hospital is making significant scientific breakthroughs into congenital myopathies and has received final year funding from this years Jeans for Genes Day appeal for his work. Since the mid 1990’s Professor Muntoni and his team have played a key role in identifying the group of genes responsible for causing the congenital muscular dystrophies. Professor Muntoni now knows that there are more than a dozen forms of congenital muscular dystrophy and believes there are many more to be found. By identifying which genes cause the condition better understanding into how it affects individuals patients will be gained. 'In the last month alone one new gene and one chromosomal location of a new gene have been identified. We are also aware, through our network of European collaborators, that another gene has just been identified’. With so much good news the possibility of developing a treatment for congenital muscular dystrophy is now a real possibility. Professor Muntoni explains ‘Our understanding of the disease has increased because we have identified common themes in protein defects. This has allowed us to start lab testing some hypotheses for treatments.’ Source: Target MD Magazine.

The following organisations support medical research in the UK.

The People's Petition

The Coalition for Medical Progress

Pro-test

The following websites contain articles, reviews and reports
on Centronuclear and Myotubular Myopathy.

NCBI/OMIM

OMIM provides the history and a basic summary of each documented disease/condition - a good foundation to start from.

PubMed

PubMed lists all research articles from peer-reviewed journals and it allows you to search under different topics.