Pompe Gene Therapy- Screening for Eligibility

Screening for Eligibility to Participate in a Clinical Trial of Gene Therapy for Late-onset Pompe Disease

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03285126

Enrollment

Registered

2017-09-15

Start date

2017-11-01

Completion date

2019-06-29

Last updated

2019-07-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Pompe Disease (Late-onset)

Brief summary

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
Eligibility for gene therapy.	Up to 2 days	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.

Countries

United States

Outcome results