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

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

doi:10.1007/s12031-015-0704-5

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

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

Department of Clinical Medicine

9 Citations (Scopus)

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 language	English
Journal	Journal of Molecular Neuroscience
Volume	58
Issue number	3
Pages (from-to)	394-400
Number of pages	7
ISSN	0895-8696
DOIs	https://doi.org/10.1007/s12031-015-0704-5
Publication status	Published - 1 Mar 2016

Keywords

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

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10.1007/s12031-015-0704-5

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title = "Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy",

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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doi = "10.1007/s12031-015-0704-5",

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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 - Soraru, 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 - 2016/3/1

Y1 - 2016/3/1

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 - Clinical Trials as Topic

KW - Europe

KW - Humans

KW - Muscular Disorders, Atrophic

KW - Registries

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

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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 -

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

Abstract

Keywords

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