Pompe Gene Therapy- Screening for Eligibility

Plain-language summary

This study aims to screen adults with Pompe disease for eligibility for a planned gene therapy study. It was designed for people aged 18 and over with two disease-causing variants in the GAA gene who had been receiving a stable dose of enzyme replacement therapy (ERT) for at least 104 weeks. The study was conducted as a trial without an assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

Duke University

Start date

11/1/2017

Estimated completion

6/29/2019

Countries

United States

Related genes

Locations

• Durham, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.