Pompe Gene Therapy- Screening for Eligibility
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT03285126 |
Recruitment Status :
Completed
First Posted : September 15, 2017
Last Update Posted : July 2, 2019
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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.
Condition or disease |
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Pompe Disease (Late-onset) |
Study Type : | Observational |
Actual Enrollment : | 19 participants |
Observational Model: | Case-Only |
Time Perspective: | Prospective |
Official Title: | Screening for Eligibility to Participate in a Clinical Trial of Gene Therapy for Late-onset Pompe Disease |
Actual Study Start Date : | November 1, 2017 |
Actual Primary Completion Date : | June 29, 2019 |
Actual Study Completion Date : | June 29, 2019 |

- 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.

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03285126
United States, North Carolina | |
Duke University Medical Center | |
Durham, North Carolina, United States, 27701 |
Principal Investigator: | Dwight Koeberl | Duke University |
Responsible Party: | Duke University |
ClinicalTrials.gov Identifier: | NCT03285126 |
Other Study ID Numbers: |
Pro00085445 |
First Posted: | September 15, 2017 Key Record Dates |
Last Update Posted: | July 2, 2019 |
Last Verified: | June 2019 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
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