Abstract
Pathomechanisms of spinal and bulbar muscular atrophy (SBMA) have been extensively investigated and are partially understood, but no effective treatment is currently available for this disabling disorder. Its rarity, the slow disease progression, and lack of sensitive-to-change outcome measures render design and conduction of clinical trials a challenging task. Therefore, it is fundamental to strengthen the network of clinical centers interested in SBMA for clinical trial readiness. We propose to create and maintain an International SBMA Registry where as many well-characterized patients as possible can be included, with the following aims: facilitate planning of clinical trials and recruitment of patients, define natural history of the disease, characterize epidemiology, develop standards of care, and inform the community of patients about research progresses and ongoing trials. We also aim at developing harmonized and coordinated biorepositories. The experience obtained during the last years in the field of other neuromuscular disorders and of Huntington disease offers valuable precedents.
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Acknowledgments
We gratefully acknowledge the support of the European Neuromuscular Centre (ENMC) for the 210th ENMC Workshop on SBMA, 27–29 March 2015 in Naarden, The Netherlands. We are grateful for the support of Telethon-Italy for building up and managing the registry platform dedicated to patients with neuromuscular diseases and for the GUP13006 grant to DP. The partial support of a grant from Regione Lombardia to DP is also acknowledged. PF is funded by an MRC/MNDA LEW Clinician Scientist Fellowship and the UCLH/NIHR BRC.
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Pareyson, D., Fratta, P., Pradat, PF. et al. Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy. J Mol Neurosci 58, 394–400 (2016). https://doi.org/10.1007/s12031-015-0704-5
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DOI: https://doi.org/10.1007/s12031-015-0704-5