Pompe Gene Therapy- Screening for Eligibility

NCT03285126 | Completed

• 1 other identifier: Pro00085445
• Study Type: observational
• Target: 19
• Locations: 1 country
• Sites: 1

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.

Conditions

Pompe Disease (Late-onset)

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adults with late on-set Pompe Disease.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Duke University: lead

Study Sites (1)

Duke University Medical Center

Durham, North Carolina, 27701, United States

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Dwight Koeberl

  Duke University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 13, 2017
• First Posted: September 15, 2017
• Study Start: November 1, 2017
• Primary Completion: June 29, 2019
• Study Completion: June 29, 2019
• Last Updated: July 2, 2019

Record last verified: 2019-06

Locations

US (1)