Sistema de Salut de Catalunya
Institut Català de la Salut
[Domínguez-González C] Neuromuscular Unit, Neurology Department, Hospital Universitario 12 de Octubre, imas12 Research Institute, Biomedical Network Research Center on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Díaz-Marín C] Neurology Department, Hospital General Universitario de Alicante Doctor Balmis, Instituto de Investigación Biosanitaria de Alicante (ISABIAL), Alicante, Spain. [Juntas-Morales R] Unitat de Trastorns Neuromusculars, Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Sistema Nerviós Perifèric, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Nascimiento-Osorio A] Neuromuscular Unit, Neurology Department, Hospital Sant Joan de Déu, Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Center for Biomedical Research Network On Rare Diseases (CIBERER), ISCIII, Barcelona, Spain. [Rivera-Gallego A] Systemic Rare Diseases Unit, Department of Internal Medicine, Hospital Universitario Alvaro Cunqueiro, Vigo, Spain. [Díaz-Manera J] John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, UK. Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
2022-12-29T11:32:12Z
2022-12-29T11:32:12Z
2022-11-05
Antibodies; Diagnosis; Pompe disease
Anticuerpos; Diagnóstico; Enfermedad de pompe
Anticossos; Diagnòstic; Malaltia de pompe
Background Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage patients with Pompe disease, a rare genetic disorder involving high-impact therapy. Through several discussion meetings and a survey, the present study aimed to learn about the management of Pompe disease in routine clinical practice in Spain, to improve clinical care in a real-life situation. Results The survey was sent to 42 healthcare professionals who manage patients with Pompe disease in their clinical practice. Although most respondents followed the clinical guidelines, clinical practice differed from the expert recommendations in many cases. Approximately 7% did not request a genetic study to confirm the diagnosis before starting treatment, and 21% considered that only two dried blood spot determinations suffice to establish the diagnosis. About 76% requested anti-GAA antibodies when there is a suspicion of lack of treatment efficacy, though a significant percentage of respondents have never requested such antibodies. According to 31% of the respondents, significant impairment of motor function and/or respiratory insufficiency is a requirement for authorizing medication at their hospital. Up to 26% waited for improvements over the clinical follow-up to maintain treatment and withdrew it in the absence of improvement since they did not consider disease stabilization to be a satisfactory outcome. Conclusions The results highlight the lack of experience and/or knowledge of some professionals caring for patients with Pompe disease. It is necessary to develop and disseminate simple guidelines that help to apply the expert recommendations better or centralize patient follow-up in highly specialized centers.
Sanofi has sponsored this project without participating in the article’s design, data analysis, or writing.
Article
Published version
English
Enquestes; Malalties congènites; Anomalies cromosòmiques; Malalties neuromusculars - Aspectes genètics; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Surveys and Questionnaires; PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation; DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn; DISEASES::Nervous System Diseases::Neuromuscular Diseases; Other subheadings::Other subheadings::Other subheadings::/genetics; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::encuestas y cuestionarios; FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación; ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas; ENFERMEDADES::enfermedades del sistema nervioso::enfermedades neuromusculares; Otros calificadores::Otros calificadores::Otros calificadores::/genética
BMC
Orphanet Journal of Rare Diseases;17
https://doi.org/10.1186/s13023-022-02574-5
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
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