Knowledge gaps among physicians treating patients with Pompe disease (PD) may be prominent, directly affecting decision-making and management of these cases, a study found.

“The data obtained also reveal the inequality in access to treatment throughout Spain, the absence of homogeneous criteria in accordance with the experts’ recommendations, and the lack of optimization of a treatment with a high economic cost,” the authors wrote. 

The paper was recently published in the Orphanet Journal of Rare Diseases.

Continue Reading

Read more about PD guidelines

This observational study included 42 healthcare workers from 7 different medical centers in Spain, who completed an online survey. Most participants treated patients with late-onset PD; of them, 29 were neurologists, and 8 were doctors in internal medicine. The remaining 5 were pediatricians who managed patients with juvenile-onset PD.

Current European guidelines state that PD diagnosis must be confirmed through enzyme or genetic analysis. However, 21.4% of the participants believed that 2 dried blood spots could make the diagnosis, and 7.1% did not order genetic testing before initiating treatment.

Less than half (42.9%) of the respondents ordered routine anti-GAA antibody testing, and 31% have never requested this test. This contrasts with the European consensus, which recommends testing every 3 months for 2 years, and then every year upon initiation of enzyme replacement therapy (ERT).

Most participants (76.2%) ordered anti-GAA antibody determination whenever they suspected suboptimal therapeutic results. Only 2.4% indicated that high antibody levels should lead to treatment discontinuation. Nonetheless, current recommendations express otherwise. This finding suggests the need to revise and potentially update such guidelines.

Regarding treatment maintenance, 26.2% of the respondents would discontinue ERT without clinical improvement, even in those patients who achieved stabilization. To date, the only indications for discontinuing treatment are severe adverse events, comorbidities that decrease the patient’s life expectancy, or the patient’s refusal. 

These results highlight a marked discrepancy between clinical guidelines and routine decisions regarding the management of PD.

“On the other hand, some answers seem to depend more on the center than on the health care region involved and, in many cases, the authorization to start and stop ERT does not rely only on the doctor but also on the pharmacy committee of the center, which may not follow the clinical guideline recommendations,” the authors concluded.


Domínguez C, Díaz C, Juntas R, et al. Survey on the management of Pompe disease in routine clinical practice in Spain. Orphanet J Rare Dis. Published online December 5, 2022. doi:10.1186/s13023-022-02574-5