RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

Patient registry; Self-reported registry; Spinal muscular atrophy

Bibliographic Details
Authors: Cattinari, Maria Grazia, de Lemus, Mencía, TIZZANO, EDUARDO F.
Format: article
Status:Published version
Publication Date:2024
Country:España
Institution:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:11351/11111
Online Access:https://hdl.handle.net/11351/11111
http://hdl.handle.net/11351/11111
Access Level:Open access
Keyword:Atròfia muscular espinal
Registres mèdics
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros
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oai_identifier_str oai:recercat.cat:11351/11111
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
title RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
spellingShingle RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
Cattinari, Maria Grazia
Atròfia muscular espinal
Registres mèdics
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros
title_short RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
title_full RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
title_fullStr RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
title_full_unstemmed RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
title_sort RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
dc.creator.none.fl_str_mv Cattinari, Maria Grazia
de Lemus, Mencía
TIZZANO, EDUARDO F.
author Cattinari, Maria Grazia
author_facet Cattinari, Maria Grazia
de Lemus, Mencía
TIZZANO, EDUARDO F.
author_role author
author2 de Lemus, Mencía
TIZZANO, EDUARDO F.
author2_role author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Cattinar MG] Fundación Atrofia Muscular Espinal España (FundAME), Madrid, Spain. [de Lemus M] Fundación Atrofia Muscular Espinal España (FundAME), Madrid, Spain. SMA Europe, Freiburg, Germany. Committee of Advanced Therapies at the European Medicines Agency, Amsterdam, The Netherlands. [Tizzano E] Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Atròfia muscular espinal
Registres mèdics
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros
topic Atròfia muscular espinal
Registres mèdics
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros
description Patient registry; Self-reported registry; Spinal muscular atrophy
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/11111
http://hdl.handle.net/11351/11111
url https://hdl.handle.net/11351/11111
http://hdl.handle.net/11351/11111
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Orphanet Journal of Rare Diseases;19
https://doi.org/10.1186/s13023-024-03071-7
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BMC
publisher.none.fl_str_mv BMC
dc.source.none.fl_str_mv Scientia
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869421103451996160
spelling RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophyCattinari, Maria Graziade Lemus, MencíaTIZZANO, EDUARDO F.Atròfia muscular espinalRegistres mèdicsDISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, SpinalANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::RegistriesENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinalTÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registrosPatient registry; Self-reported registry; Spinal muscular atrophyRegistre de pacients; Registre autoinformat; Atròfia muscular espinalRegistro de pacientes; Registro autoinformado; Atrofia muscular espinalBackground Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability. Over the last decade, SMA has dramatically changed thanks to new advances in care and the emergence of disease-specific treatments. RegistrAME is a self-reported specific disease registry with an accurate curation system. It has collected data on SMA patients in Spain since 2015, gathering demographic, clinical, and patient-reported outcome data, all of which are patient-relevant. RegistrAME is part of the TREAT NMD network. This study aims to describe the advantages and disadvantages of a self–reported SMA registry, as well as the different variables of interest in the health status of RegistrAME patients. Results In total, 295 living patients with a confirmed diagnosis of SMA-5q were included (aged 1 to 77 years; mean 20.28). Half of the patients (50.2%) were ≥ 16 years old; 22.03% were type 1, 48.47% were type 2, 28.82% were type 3, and 0.7% were type 4. All functional statuses (non-sitter, sitter, and walkers) could be observed in each SMA type. Adult patients harbored the least aggressive SMA types, however, they presented the greatest level of disability. Patients with SMA type 1 had scoliosis surgery about five years earlier than patients with SMA type 2. None of the type 1 patients who achieved ambulation were wheelchair-free outdoors. This was also evident in 62.5% of type 2 walker patients and 44% of type 3 walker patients. Of the SMA type 1 patients, 40% had a gastrostomy (of which 84% had two SMN2 copies). One in five children with SMA type 1 (one to seven years of age) were ventilation-free. Conclusions The information provided by RegistrAME in a “real-world” setting allows better management of family expectations, an adequate approach to the disease and patients’ needs, as well as a better understanding of the impact of the disease. It also helps monitor the evolution of care, which will result in the need for updated guidelines.Funding for this project was provided by FundAME.BMCInstitut Català de la Salut[Cattinar MG] Fundación Atrofia Muscular Espinal España (FundAME), Madrid, Spain. [de Lemus M] Fundación Atrofia Muscular Espinal España (FundAME), Madrid, Spain. SMA Europe, Freiburg, Germany. Committee of Advanced Therapies at the European Medicines Agency, Amsterdam, The Netherlands. [Tizzano E] Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202420242024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/11111http://hdl.handle.net/11351/11111Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésOrphanet Journal of Rare Diseases;19https://doi.org/10.1186/s13023-024-03071-7Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/111112026-05-29T05:05:01Z
score 15,811543

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