The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders

被引：2

作者：

Stinissen, Lizan ^{[1
]}

Bouma, Sietse ^{[1
]}

Boehm, Johann ^{[2
]}

van Tienen, Jeno ^{[3
]}

Fischer, Holger ^{[3
]}

Hughes, Zak ^{[4
]}

Lennox, Anne ^{[4
]}

Ward, Erin ^{[5
]}

Wood, Marie ^{[5
]}

Foley, A. Reghan ^{[5
]}

Oortwijn, Wija ^{[6
]}

Jungbluth, Heinz ^{[7
,8
]}

Voermans, Nicol C. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Neurol, Donders Inst Brain Cognit & Behav, POB 9101, NL-6500 HB Nijmegen, Netherlands

[2] Univ Strasbourg, Inst Genet & Biol Mol & Cellulaire IGBMC, CNRS UMR 7104, Inserm U 1258, Illkirch Graffenstaden, France

[3] ZNM ZusammenStark, Stuttgart, Germany

[4] Myotubular Trust, London, England

[5] NIH, Neuromuscular & Neurogenet Dis Childhood, Neurogenet Branch NGB, Bethesda, MD USA

[6] Radboud Univ Nijmegen, Dept Hlth Evidence, Med Ctr, Nijmegen, Netherlands

[7] Guys & St Thomas NHS Fdn Trust, Evelina Childrens Hosp, Dept Paediat Neurol, Neuromuscular Serv, London, England

[8] Kings Coll London, Fac Life Sci & Med FoLSM, Randall Ctr Cell & Mol Biophys, Muscle Signalling Sect, London, England

来源：

NEUROMUSCULAR DISORDERS | 2024年 / 38卷

关键词：

Participants' experience; Trial participation; Congenital myopathies; Neuromuscular disorders;

D O I：

10.1016/j.nmd.2023.12.014

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The design of a clinical trial for a rare disease can be challenging. An optimal study design is required to effectively study the clinical outcomes for possible therapies for these types of disorders. Understanding the study participants' experiences as well as barriers and facilitators of participation are important to optimize future research and to inform clinical trial management. Centronuclear myopathies (CNMs) including X -linked myotubular myopathy (XLMTM) are a group of rare congenital myopathies for which there is no cure currently. Since 2014, a number of natural history studies and clinical trials have been conducted in CNMs. Two trials have been prematurely terminated because of severe adverse events. Since no research has been conducted regarding trial experience in CNM, we performed a scoping literature research on clinical trial experience of patients with neuromuscular disorders in general. The most common barriers to trial participation of patients comprise concerns about potential harmful effects, opportunity loss and the expected burden on daily life. The most common facilitators were an expected benefit on the disease course, altruism and collateral benefit. While several results are in line with trial experiences of other types of patients, for example oncological patients, distinctions can be made for patients with CNM and other neuromuscular disorders. However, the limited availability of relevant literature suggests that future (qualitative) research should focus on trial experiences in CNM patients. (c) 2024 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license ( http://creativecommons.org/licenses/by/4.0/ )

引用

页码：1 / 7

页数：7