Survey on the management of Pompe disease in routine clinical practice in Spain

Orphanet J Rare Dis. 2022 Dec 5;17(1):426. doi: 10.1186/s13023-022-02574-5.


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.

Keywords: Antibodies; Diagnosis; Follow-up; Guidelines; Pompe disease; Treatment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Glycogen Storage Disease Type II* / drug therapy
  • Humans
  • Spain
  • Surveys and Questionnaires
  • alpha-Glucosidases / genetics
  • alpha-Glucosidases / therapeutic use


  • alpha-Glucosidases