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

Research output: Contribution to journalJournal articleResearchpeer-review

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

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
JournalJournal of Molecular Neuroscience
Volume58
Issue number3
Pages (from-to)394-400
Number of pages7
ISSN0895-8696
DOIs
Publication statusPublished - Mar 2016

    Research areas

  • Clinical Trials as Topic, Europe, Humans, Muscular Disorders, Atrophic, Registries, Journal Article, Research Support, Non-U.S. Gov't

ID: 176992805