Survey on the management of Pompe disease in routine clinical practice in Spain
Domínguez-González, C (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Díaz-Marín, Carmina (Hospital General Universitario de Alicante (Alacant, País Valencià))
Juntas-Morales, Raúl (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Nascimiento-Osorio, Andrés (Hospital Sant Joan de Déu (Barcelona, Catalunya))
Rivera-Gallego, Alberto (Hospital Álvaro Cunqueiro (Vigo))
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)

Date:	2022
Abstract:	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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Antibodies ; Diagnosis ; Follow-up ; Guidelines ; Pompe disease ; Treatment
Published in:	Orphanet Journal of Rare Diseases, Vol. 17 Núm. 1 (december 2022) , p. 426, ISSN 1750-1172

DOI: 10.1186/s13023-022-02574-5
PMID: 36471448

7 p, 1.1 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles