Spinal Muscular Atrophy

Location: Naarden, The Netherlands

14 Doctors and scientists from 7 countries gathered in Naarden, The Netherlands, from 9th to 10th February 2001 for the 10th ENMC workshop on Spinal Muscular Atrophy. The focus of this workshop was to review the current experience in clinical trials in SMA, consider the available drugs with a rationale in this disorder, and plan the organisation of a project called European Spinal Muscular Atrophy Randomised Trial (EuroSMART). Currently it appears that patients with SMA aged 5 to 60 could be easily and reliably evaluated in order to test the efficacy of an intervention in an appropriate designed trial. The available drugs with some rationale in SMA and amyotrophic lateral sclerosis (ALS) were reviewed in details taking in consideration also their safety profile in paediatric and adult patients. There are new animal models of SMA that may be suitable for testing the efficacy of new and existing molecules. A study was presented which showed contrasting results on the willingness of patients and their parents to participate in clinical trials. However the recent experience of the ongoing Italian SMART with Gabapentin showed a great interest in randomised trials and only rare cases of "non-willingness to participate". Finally there was a general consensus on the opportunity to generate an European SMART study under the auspices of the ENMC. This 4 year European project will produce a common protocol of evaluation through different key centers in Europe. The project will be submitted for financial support at the October call of the 5th European Union Framework Programme.

Dr. L. Merlini (Bologna, Italy)

An extended report of this meeting is published in Neuromuscular Disorders, Volume 12, No.2, February 2002.