Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy

Davide Pareyson, Pietro Fratta, Pierre François Pradat, Gianni Sorarù, Josef Finsterer, John Vissing, Manu E. Jokela, Bjarne Udd, Albert C. Ludolph, Anna Sagnelli, Patrick Weydt

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)394-400
Number of pages7
JournalJournal of Molecular Neuroscience
Volume58
Issue number3
DOIs
Publication statusPublished - Mar 1 2016

Keywords

  • Biorepository
  • Clinical trials
  • Kennedy disease
  • Registry
  • Spinal and bulbar muscular atrophy

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience

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