Pompe Gene Therapy- Screening for Eligibility

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

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 Overview

• Status: Completed
• Conditions: Pompe Disease (Late-onset)

• Study Type: Observational
• Enrollment (Actual): 19

Contacts and Locations

Study Locations

• United States
  • North Carolina
    • Durham, North Carolina, United States, 27701
      • Duke University Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Adults with late on-set Pompe Disease.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	Up to 2 days

Collaborators and Investigators

• Sponsor: Duke University
• Investigators: Principal Investigator: Dwight Koeberl, Duke University

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2017
• Primary Completion (Actual): June 29, 2019
• Study Completion (Actual): June 29, 2019

Study Registration Dates

• First Submitted: September 13, 2017
• First Submitted That Met QC Criteria: September 13, 2017
• First Posted (Actual): September 15, 2017

Study Record Updates

• Last Update Posted (Actual): July 2, 2019
• Last Update Submitted That Met QC Criteria: July 1, 2019
• Last Verified: June 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Glycogen Storage Disease Type II
• Other Study ID Numbers: Pro00085445

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No