Pompe Gene Therapy- Screening for Eligibility

Duke University

Status: Completed

Conditions: Pompe Disease (Late-onset)

Study type: Observational

Funder types: Other

Identifiers

NCT03285126

Pro00085445

Details and patient eligibility

About

The purpose of this study is to determine eligibility for the future clinical trial of gene therapy in adults with late-onset Pompe disease.

This screening protocol will enroll up to 20 adults patients (>=18 yo) with late-onset Pompe disease. Study assessments include review of medical history, vital signs, physical examination, muscle function testing, lung function testing, blood and urine collection, serum pregnancy test and ECG.

The study results will be collected to perform descriptive statistical analysis and used to determine eligibility for the proposed clinical trial of gene therapy in the future.

Enrollment: 19 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria

• Diagnosis of Pompe disease by blood or skin fibroblast GAA assay and two pathogenic variants in the GAA gene.
• Age: at least 18 years at enrollment.
• Subjects are capable of giving written consent.
• Receiving ERT at a stable dose for at least 104 weeks.

Exclusion Criteria

• Any condition that would interfere with participation in the study as determined by the principal investigator.
• Pregnancy or nursing mothers.
• History of active hepatitis B, hepatitis C, or cirrhosis
• Receiving any investigational agent.