A Global Prospective Observational Registry of Patients With Pompe Disease

Pompe Disease Clinical Trial

Official title:

A Global Prospective Observational Registry of Patients With Pompe Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06121011
• Other study ID #: POM-005
• Status: Recruiting
• Start date: February 16, 2024
• Est. completion date: December 20, 2034

Study information

• Verified date: April 2024
• Source: Amicus Therapeutics
• Contact: For Site
• Phone: 215-921-7600
• Email: PompeSiteInfo[@]amicusrx.com
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD). Both untreated patients and those being treated with an approved therapy for Pompe disease are eligible to participate. The objectives of the registry are: - To evaluate the long-term safety of Pompe disease treatments through collection of data that describe the frequency of adverse events (AEs)/serious adverse events (SAEs) occurring in Pompe disease patients - To evaluate the long-term real-world effectiveness of Pompe disease treatments - To evaluate the long-term real-world impact of Pompe disease treatments on quality of life (QOL) and patient-reported outcomes (PROs) - To describe the natural history of untreated Pompe disease

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: December 20, 2034
• Est. primary completion date: December 20, 2034
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping

Exclusion Criteria:

• Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP)

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Pompe Disease

Intervention

Biological:
• Cipaglucosidase alfa
Enzyme Replacement Therapy (ERT) via intravenous infusion

Drug:
• Miglustat
Participants received ATB200 co-administered with AT2221 (Miglustat)

Biological:
• Alglucosidase alfa or Avalglucosidase alfa
Patients prescribed other commercially available ERT after local regulatory approval

Other:
• Untreated
Patients who are not currently receiving any medical therapy for Pompe disease.

Locations

Country	Name	City	State
United States	Emory University	Atlanta	Georgia
United States	University of Cincinnati Medical Center	Cincinnati	Ohio
United States	Lysosomal and Rare Disorders Research and Treatment Center, Inc.	Fairfax	Virginia
United States	Indiana University, IU Health Physicians Neurology	Indianapolis	Indiana
United States	University of Arkansas Medical Science	Little Rock	Arkansas
United States	NYU Langone Medical Center	New York	New York
United States	University of Pennsylvania Perelman Center for Advanced Medicine	Philadelphia	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
Amicus Therapeutics

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Evaluate long-term safety of Pompe disease treatments	Data collection that describe the frequency of AEs/SAEs occurring in Pompe disease patients	5 years