Status:

NOT_YET_RECRUITING

Treatment Frequency Reduction in Pompe Disease

Lead Sponsor:

Erasmus Medical Center

Conditions:

Pompe Disease (Late-onset)

GAA Deficiency

Eligibility:

All Genders

50+ years

Phase:

PHASE4

Brief Summary

The aim of this study is to assess if dosing frequency reduction of alglucosidase alfa 20 mg/kg once every 2 weeks to once every 4 weeks is safe and does not lead to increased progression of disease i...

Detailed Description

All eligible patients with late-onset Pompe disease will be treated with alglucosidase alfa 20 mg/kg once every 4 weeks for 9 months. During the study, patients will be monitored once every 3 months. ...

Eligibility Criteria

Inclusion

  • 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

  • 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

Key Trial Info

Start Date :

October 1 2024

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

December 31 2027

Estimated Enrollment :

10 Patients enrolled

Trial Details

Trial ID

NCT06575829

Start Date

October 1 2024

End Date

December 31 2027

Last Update

August 28 2024

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