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SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe

Nathalie Kayadjanian1*, Arthur Burghes2, Richard S Finkel3, Eugenio Mercuri4, Francoise Rouault5, Inge Schwersenz6 and Kevin Talbot7

Author Affiliations

1 TransBioMed solutions LLC, Murray Hill, USA

2 College of Medicine, Ohio State University, Columbus, USA

3 Nemours Children’s Hospital, Orlando, USA

4 Pediatric Neurology Unit, Catholic University, Rome, Italy

5 Association Française contre les Myopathies, Evry, France

6 SMA-EUROPE, Freiburg, Germany

7 Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, UK

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Orphanet Journal of Rare Diseases 2013, 8:44  doi:10.1186/1750-1172-8-44

Published: 20 March 2013


Spinal muscular atrophy (SMA) is the most common lethal recessive disease in childhood, and there is currently no effective treatment to halt disease progression. The translation of scientific advances into effective therapies is hampered by major roadblocks in clinical trials, including the complex regulatory environment in Europe, variations in standards of care, patient ascertainment and enrolment, a narrow therapeutic window and a lack of biomarkers of efficacy. In this context, SMA-Europe organized its first international workshop in July 2012 in Rome, gathering 34 scientists, clinicians and representatives of patient organizations to establish recommendations for improving clinical trials for SMAa.

Spinal muscular atrophy; Clinical trials; Preclinical drug selection; Phase III trial planning; Patient registries; Neonatal trials; Newborn screening; Standards of care; European regulations; Efficacy biomarkers