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.
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Via Celoria 11, 20133, Milan, Italy. davide.pareyson@istituto-besta.it.
authors.forename: Davide
authors.initials: D
authors.lastname: Pareyson
authors.affiliation: Centre for Neuromuscular Diseases and Sobell Department for Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, UK.
authors.forename: Pietro
authors.initials: P
authors.lastname: Fratta
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, F-75013, Paris, France.|APHP, Hôpital Pitié-Salpêtriere, Département des Maladies du Système Nerveux, Centre référent SLA, Paris, France.
authors.forename: Pierre-François
authors.initials: PF
authors.lastname: Pradat
authors.affiliation: Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: Gianni
authors.initials: G
authors.lastname: Sorarù
authors.affiliation: Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria.
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
authors.affiliation: Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors.forename: John
authors.initials: J
authors.lastname: Vissing
authors.affiliation: Turku University Hospital and University of Turku, Turku, Finland.
authors.forename: Manu E
authors.initials: ME
authors.lastname: Jokela
authors.affiliation: Neuromuscular Research Center, Tampere University and Hospital, Tampere, Finland.
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
authors.affiliation: Clinic of Neurology, Ulm University, 89081, Ulm, Germany.
authors.forename: Albert C
authors.initials: AC
authors.lastname: Ludolph
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Via Celoria 11, 20133, Milan, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Sagnelli
authors.affiliation: Clinic of Neurology, Ulm University, 89081, Ulm, Germany. patrick.weydt@uni-ulm.de.
authors.forename: Patrick
authors.initials: P
authors.lastname: Weydt
mesh_terms: D002986:Clinical Trials as Topic; D005060:Europe; D006801:Humans; D020966:Muscular Disorders, Atrophic / Q000453:epidemiology / Q000473:pathology* / Q000628:therapy; D012042:Registries
keywords: Biorepository; Clinical trials; Kennedy disease; Registry; Spinal and bulbar muscular atrophy