TY - JOUR
T1 - Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy
AU - Pareyson, Davide
AU - Fratta, Pietro
AU - Pradat, Pierre-François
AU - Sorarù, Gianni
AU - Finsterer, Josef
AU - Vissing, John
AU - Jokela, Manu E
AU - Udd, Bjarne
AU - Ludolph, Albert C
AU - Sagnelli, Anna
AU - Weydt, Patrick
PY - 2016/3
Y1 - 2016/3
N2 - 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.
AB - 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.
KW - Journal Article
KW - Research Support, Non-U.S. Gov't
U2 - 10.1007/s12031-015-0704-5
DO - 10.1007/s12031-015-0704-5
M3 - Journal article
C2 - 26744358
SN - 0895-8696
VL - 58
SP - 394
EP - 400
JO - Journal of Molecular Neuroscience
JF - Journal of Molecular Neuroscience
IS - 3
ER -