サイトウ　カヨコ   Saito Kayoko   齋藤　加代子    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design.
掲載誌名	正式名：Journal of neuromuscular diseases 略　 称：J Neuromuscul Dis ISSNコード：22143602
掲載区分	国外
巻・号・頁	7(2),pp.145-152
著者・共著者	Finkel Richard S, Day John W, De Vivo Darryl C, Kirschner Janbernd, Mercuri Eugenio, Muntoni Francesco, Shieh Perry B, Tizzano Eduardo, Desguerre Isabelle, Quijano-Roy Susana, Saito Kayoko, Droege Marcus, Dabbous Omar, Khan Farid, Renault Lydie, Anderson Frederick A, Servais Laurent
発行年月	2020/03/20
概要	BACKGROUND:Dramatic improvements in spinal muscular atrophy (SMA) treatment have changed the prognosis for patients with this disease, leading to important new questions. Gathering representative, real-world data about the long-term efficacy and safety of emerging SMA interventions is essential to document their impact on patients and caregivers.OBJECTIVES:This registry will assess outcomes in patients with genetically confirmed SMA and provide information on the effectiveness and long-term safety of approved and emerging treatments.DESIGN AND METHODS:RESTORE is a prospective, multicenter, multinational observational registry. Patients will be managed according to usual clinical practice. Both newly recruitedSMAtreatment centers and sites involved in existing SMA registries, including iSMAC, Treat-NMD, French SMA Assistance Publique- Hôpitaux de Paris (AP-HP), Cure-SMA, SMArtCARE, will be eligible to participate; de novo; sites already participating in another registry may be included via consortium agreements. Data from patients enrolled in partnering registries will be shared with the RESTORE Registry and data for newly diagnosed patients will be added upon enrollment. Patients will be enrolled over a 5-year period and followed for 15 years or until death. Assessments will include SMA history and treatment, pulmonary, nutritional, and motor milestones, healthcare resource utilization, work productivity, activity impairment, adverse events, quality of life, caregiver burden, and survival.Status:Recruitment started in September 2018. As of January 3, 2020, 64 patients were enrolled at 25 participating sites.CONCLUSIONS:The RESTORE Registry has begun recruiting recently diagnosed patients with genetically confirmed SMA, enabling assessment of both short- and long-term patient outcomes.
DOI	10.3233/JND-190451
PMID	32039859