Treatment Frequency Reduction in Pompe Disease

Launched by ERASMUS MEDICAL CENTER · Aug 26, 2024

Keywords

ClinConnect Summary

This clinical trial is studying whether patients with late-onset Pompe disease can safely reduce their treatment frequency of alglucosidase alfa from every two weeks to every four weeks, without worsening their condition. Pompe disease is a rare genetic disorder that affects muscle strength and function due to a deficiency in an enzyme. The trial aims to find out if this less frequent dosing can still provide effective treatment while maintaining the patients' health.

To participate in this study, potential candidates need to be at least 50 years old, have been receiving the standard dose of treatment for at least four years, and have stable health over the past year. They should also be able to walk a certain distance and have good lung function. However, individuals with rapidly worsening muscle weakness, severe limitations in muscle strength, or those requiring significant respiratory support will not be eligible. Participants will be closely monitored throughout the study to ensure their safety and health are prioritized while assessing the effectiveness of the new dosing schedule.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • LOPD (confirmed diagnosis: enzyme deficiency in any tissue source and/or 2 confirmed disease-causing variants in the GAA gene)
• • Age ≥50 years
• • Current treatment with alglucosidase alfa at a standard dose of 20 mg/kg once every 2 weeks for ≥4 years
• • Relatively stable clinical condition over the past year
• • Able to walk ≥150 m within 6 minutes (6MWT)
• • (Forced) vital capacity (FVC) in sitting position: \>55% of expected value and in supine position: \>45% of expected value
• • Willing and able to adhere to the study procedures
• Exclusion Criteria:
• • Rapidly progressive muscle weakness
• • Severely limited muscle strength almost requiring/requiring daily wheelchair use
• • Requiring respiratory support (non-invasive/invasive ventilation) or being at high risk to require respiratory support (ventilation) due to further deterioration of current pulmonary function. Using continuous positive airway pressure (CPAP) support only for obstructive sleep apnea syndrome (OSAS) is permitted.
• • Comorbidities which are expected to influence the primary outcome measures within the next 2 years