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Completed

NCT Number: NCT03285126

Pompe Gene Therapy- Screening for Eligibility

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.

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Key information

Conditions

Pompe Disease (Late-onset) Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Duke University Medical Center

Durham, North Carolina, 27701, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Eligibility for gene therapy.

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Duke University

Other

Registry information

Official study title

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

Important dates

Study start
2017
Primary completion
2019
Study completion
2019
First posted
Sep 15, 2017
Registry last updated
Jul 2, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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