Survey on the management of Pompe disease in routine clinical practice in Spain
Por:
Dominguez-Gonzalez, C, Diaz-Marin, C, Juntas-Morales, R, Nascimiento-Osorio, A, Rivera-Gallego, A, Diaz-Manera, J
Publicada:
5 dic 2022
Ahead of Print:
5 dic 2022
Resumen:
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.
Filiaciones:
Dominguez-Gonzalez, C:
Inst Salud Carlos III, Neuromuscular Unit, Neurol Dept, Hosp Univ 12 Octubre,Imas12 Res Inst,Biomed Netwo, Av Cordoba S-N, Madrid 28041, Spain
Diaz-Marin, C:
Hosp Gen Univ Alicante Doctor Balmis, Inst Invest Biosanitaria Alicante ISABIAL, Neurol Dept, Alicante, Spain
Juntas-Morales, R:
Vall dHebron Inst Res VHIR, Neuromuscular Unit, Neurol Dept, Hosp Univ Vall dHebron,Peripheral Nervous Syst Gr, Barcelona, Spain
Nascimiento-Osorio, A:
Hosp St Joan de Deu, Neuromuscular Unit,ISCIII, Neurol Dept,Ctr Biomed Res Network Rare Dis CIBER, Appl Res Neuromuscular Dis,Inst Recerca St Joan d, Barcelona, Spain
Rivera-Gallego, A:
Hosp Univ Alvaro Cunqueiro, Dept Internal Med, Syst Rare Dis Unit, Vigo, Spain
Diaz-Manera, J:
Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
Hosp Santa Creu & Sant Pau, Inst Recerca, Barcelona, Spain
gold, Green Published, All Open Access, Gold, Green
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