Pompe Gene Therapy- Screening for Eligibility

Duke University19 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Pompe Disease (Late-onset)

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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.

Locations (1)

Duke University Medical Center

Durham, North Carolina, United States

Outcomes

Primary Outcomes

Eligibility for gene therapy.

The purpose of this study is to determine eligibility for the proposed clinical trial of gene therapy in adults with late-onset Pompe disease. Eligibility is measure by a composite score of blood tests, Electrocardiogram, Pulmonary Function Tests, and Muscle Status Testing.

Time frame: Up to 2 days

Data from ClinicalTrials.gov

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