{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:41:23Z","timestamp":1789764083216,"version":"4.0.1"},"reference-count":42,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T00:00:00Z","timestamp":1578441600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2020,1,8]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design and Methods:<\/jats:title>\n                    <jats:p>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- H\u00f4pitaux 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Status:<\/jats:title>\n                    <jats:p>Recruitment started in September 2018. As of January 3, 2020, 64 patients were enrolled at 25 participating sites.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>The RESTORE Registry has begun recruiting recently diagnosed patients with genetically confirmed SMA, enabling assessment of both short- and long-term patient outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-190451","type":"journal-article","created":{"date-parts":[[2020,2,7]],"date-time":"2020-02-07T14:55:07Z","timestamp":1581087307000},"page":"145-152","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":42,"title":["RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design"],"prefix":"10.1177","volume":"7","author":[{"given":"Richard S.","family":"Finkel","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Neurology, Nemours Children\u2019s Hospital, Orlando, FL, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Day","sequence":"additional","affiliation":[{"name":"Department of Neurology, Stanford University Medical Center, Stanford, CA, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl C.","family":"De Vivo","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janbernd","family":"Kirschner","sequence":"additional","affiliation":[{"name":"Clinic for Neuropediatrics and Muscle Disease, University Medical Center Freiburg, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perry B.","family":"Shieh","sequence":"additional","affiliation":[{"name":"Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Tizzano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[{"name":"H\u00f4pital Necker Enfants Malades, APHP, Paris"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Quijano-Roy","sequence":"additional","affiliation":[{"name":"Garches Neuromuscular Reference Center (GNMH), APHP Raymond Poincare University Hospital (UVSQ), Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Tokyo Women\u2019s Medical University, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Droege","sequence":"additional","affiliation":[{"name":"AveXis, Inc., Bannockburn, IL, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Dabbous","sequence":"additional","affiliation":[{"name":"AveXis, Inc., Bannockburn, IL, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farid","family":"Khan","sequence":"additional","affiliation":[{"name":"AveXis, Inc., Bannockburn, IL, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydie","family":"Renault","sequence":"additional","affiliation":[{"name":"AveXis, Switzerland GmbH, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederick A.","family":"Anderson","sequence":"additional","affiliation":[{"name":"Center for Outcomes Research, University of Massachusetts Medical School, Worcester, MA, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[{"name":"Oxford Neuromuscular Center, Oxford University, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,2,7]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.01.003"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0201004"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0199657"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2017.189"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13534"},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.09.015"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25101"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-316015"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814553271"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000741"},{"key":"ref012","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.04.004"},{"key":"ref013","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318271f7e4"},{"key":"ref014","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000290830.40544.b9"},{"key":"ref015","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1710504"},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201906-1175LE"},{"key":"ref017","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1702752"},{"key":"ref018","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1706198"},{"key":"ref019","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.06.411"},{"key":"ref020","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(16)31408-8"},{"key":"ref021","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305788"},{"key":"ref022","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.004"},{"key":"ref023","doi-asserted-by":"publisher","DOI":"10.1016\/j.conctc.2018.07.002"},{"key":"ref024","unstructured":"ClinicalTrials.gov. Long-term follow-up study for patients from AVXS-101-CL-101 (START) (NCT03421977). 2018 [cited 2019 Jun 15]. Available from: https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03421977?term=%22spinal+muscular+atrophy%22&lupd_s=12%2F06%2F2015&lupd_d=1000."},{"key":"ref025","unstructured":"GliklichRE, DreyerNA, LeavyMB, editors. Registries for Evaluating Patient Outcomes: A User\u2019s Guide [Internet]. 3rd ed. Rockville (MD): Agency for Healthcare Research and Quality (US); 2014 Apr [cited 2019 15 Jun]. Available from http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK208616\/"},{"key":"ref026","unstructured":"MercuriE, FinkelR, ScotoM, HallS, EatonS, RashidA, et al. Development of an academic disease registry for spinal muscular atrophy. Neuromuscul Disord. 2019 Aug 29."},{"key":"ref027","unstructured":"TREAT-NMD. SMA Registry Core Data. 2014 [cited 2019 15 Jun]. Available from: http:\/\/www.treatnmd.eu\/downloads\/file\/registries_toolkit\/SMA_core_dataset_March2014.pdf"},{"key":"ref028","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-7154-1"},{"key":"ref029","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8549-1"},{"key":"ref030","unstructured":"Cure SMA. SMA Clinical Care Center Network \/ Clinical Data Registry & Clinical Trials Site Readiness for SMA. 2018 [cited 2019 Jun 15]. Available from: http:\/\/www.curesma.org\/documents\/32118-clinical-webinar-deck.pdf."},{"key":"ref031","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-0998-4"},{"key":"ref032","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0598-1"},{"key":"ref033","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.05.010"},{"key":"ref034","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006281"},{"key":"ref035","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)32160-8"},{"key":"ref036","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-309405"},{"key":"ref037","doi-asserted-by":"publisher","DOI":"10.3233\/JND-180304"},{"key":"ref038","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.02.003"},{"key":"ref039","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.152"},{"key":"ref040","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.06.042"},{"key":"ref041","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24653"},{"key":"ref042","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-16"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-190451","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/JND-190451","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-190451","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:49:26Z","timestamp":1777506566000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JND-190451"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,8]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,1,8]]}},"alternative-id":["10.3233\/JND-190451"],"URL":"https:\/\/doi.org\/10.3233\/jnd-190451","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,8]]}}}