An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium

Background: Patient registries play an important role in rare disease, particularly for recruitment of clinical trials and clinical research.Methods: In 2012, we launched a registry for the purpose of clarifying the clinical characteristics of spinal muscular atrophy (SMA) in Japan and with the goal...

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Autores principales:	Tamaki Kato, Mari Urano, Mari Matsuo, Kayoko Saito
Formato:	article
Lenguaje:	EN
Publicado:	Society of Tokyo Women's Medical University 2021
Materias:	national registry spinal muscular atrophy clinical characteristics japan Medicine R
Acceso en línea:	https://doaj.org/article/2648c86ee2814deb80c5f89adf45531c
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spelling	oai:doaj.org-article:2648c86ee2814deb80c5f89adf45531c2021-11-09T07:00:00ZAn Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium2432-618610.24488/twmuj.2021010https://doaj.org/article/2648c86ee2814deb80c5f89adf45531c2021-11-01T00:00:00Zhttps://www.jstage.jst.go.jp/article/twmuj/advpub/0/advpub_2021010/_pdf/-char/enhttps://doaj.org/toc/2432-6186Background: Patient registries play an important role in rare disease, particularly for recruitment of clinical trials and clinical research.Methods: In 2012, we launched a registry for the purpose of clarifying the clinical characteristics of spinal muscular atrophy (SMA) in Japan and with the goal of enrolling patients with SMA into newly started clinical trials. In order to document the current status of SMA in Japan, we conducted a survey based on the data of 277 SMA patients enrolled in the registry from October 2012 to July 2020.Results: Genetic testing was performed in 95% of patients. Patients with type III SMA experienced the longest onset to genetic diagnosis times, while those with type I had the shortest times. Tongue fasciculation was more common in types I and II SMA, while finger fasciculation was more common in types II and III. The site of fasciculation was thought to be the key to predicting the disease type. Over-the-counter or investigational drugs were administered to 76% of patients as of June 2019.Conclusion: Our registry is useful for understanding the current status of SMA patients in Japan, and can provide accurate and up-to-date information on the clinical course of patients over their lifetime.Tamaki KatoMari UranoMari MatsuoKayoko SaitoSociety of Tokyo Women's Medical Universityarticlenational registryspinal muscular atrophyclinical characteristicsjapanMedicineRENTokyo Women's Medical University Journal, Vol advpub, Iss 0 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	national registry spinal muscular atrophy clinical characteristics japan Medicine R
spellingShingle	national registry spinal muscular atrophy clinical characteristics japan Medicine R Tamaki Kato Mari Urano Mari Matsuo Kayoko Saito An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium
description	Background: Patient registries play an important role in rare disease, particularly for recruitment of clinical trials and clinical research.Methods: In 2012, we launched a registry for the purpose of clarifying the clinical characteristics of spinal muscular atrophy (SMA) in Japan and with the goal of enrolling patients with SMA into newly started clinical trials. In order to document the current status of SMA in Japan, we conducted a survey based on the data of 277 SMA patients enrolled in the registry from October 2012 to July 2020.Results: Genetic testing was performed in 95% of patients. Patients with type III SMA experienced the longest onset to genetic diagnosis times, while those with type I had the shortest times. Tongue fasciculation was more common in types I and II SMA, while finger fasciculation was more common in types II and III. The site of fasciculation was thought to be the key to predicting the disease type. Over-the-counter or investigational drugs were administered to 76% of patients as of June 2019.Conclusion: Our registry is useful for understanding the current status of SMA patients in Japan, and can provide accurate and up-to-date information on the clinical course of patients over their lifetime.
format	article
author	Tamaki Kato Mari Urano Mari Matsuo Kayoko Saito
author_facet	Tamaki Kato Mari Urano Mari Matsuo Kayoko Saito
author_sort	Tamaki Kato
title	An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium
title_short	An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium
title_full	An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium
title_fullStr	An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium
title_full_unstemmed	An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium
title_sort	overview of the clinical characteristics of japanese patients with spinal muscular atrophy: data from smart consortium
publisher	Society of Tokyo Women's Medical University
publishDate	2021
url	https://doaj.org/article/2648c86ee2814deb80c5f89adf45531c
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An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium

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