Therapeutic possibilities in Duchenne dystrophy

Number 101
Date 30 November 2001

A special centennial workshop to celebrate the 100 workshops organised to date by the ENMC was held in Naarden from 30th November to 2nd December 2001. It was devoted to therapeutic possibilities in Duchenne muscular dystrophy and attended by 25 invited participants from Australia, Belgium, France, Germany, Italy, The Netherlands, the United Kingdom, Switzerland and the United States. The workshop brought together experts from a number of different disciplines and was devoted to an active discussion of all the main therapeutic avenues, with opening reviews by individual experts in each area and active discussion by the participants.

All aspects of potential gene therapy were reviewed, ranging from cell therapy with either muscle cells or multipotential stem cells, and various approaches to direct gene therapy, either by replacement of the faulty gene, or by gene repair of the existing gene. Most of this work is still evolving in animal studies but some preliminary studies are in progress as to safety of similar methods of direct gene introduction into dystrophic muscles with specific documented mutations. These studies will need to be completed before any therapeutic trials in patients can be started.

A session was devoted to the provision of alternative proteins such as utrophin and other related proteins to replace to missing dystrophin in the mdx mouse, and a more lowly microscopic nematode worm. Studies of pharmaceutics products in the mdx mouse were reviewed as a possible way of identifying medications that might be of potential use in Duchenne. Current clinical trials of steroids and their potential medication were reviewed. The meeting closed with a special session on ways of translating laboratory studies to clinical trials and the potential partnership of the pharmaceutical industry.

A short report on this workshop is published in Neuromuscular Disorders, Volume 12, No. 4, May 2002, and a more comprehensive publication of all the proceeding of this important and fruitful workshop has been edited as a special supplement toNeuromuscular Disorders in October 2002 (Volume 12, Suppl. 1).

An extended lay version of this report is available here.

Prof. Victor Dubowitz (London, UK)
Director of Therapeutic Studies, ENMC