Enzyme Replacement Therapy in Pompe Disease Clinical Trial
Official title:
Cardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe Disease
Verified date | May 2017 |
Source | Rambam Health Care Campus |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
Introduction: Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe
disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric
Pompe patients.
Methods: Pompe patients (10-19 years) were evaluated before and two days after ERT using
cardiopulmonary exercise testing (CPET), six minutes walking test (6MWT) and motor function
test (GMFM-88).
Status | Completed |
Enrollment | 5 |
Est. completion date | March 30, 2017 |
Est. primary completion date | April 30, 2014 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 8 Years and older |
Eligibility |
Inclusion Criteria: - Pompe disease diagnosed by a deficiency of acid alpha-glucosidase enzyme activity in dry blood spot and/or lymphocytes, followed by the study of the disease-causing mutations using DNA analysis of the GAA gene - Age =8 y/o - ERT =1 year - Capable of cycling on a stationary bicycle. Exclusion Criteria: - Invasive ventilation - Continuous ventilation and/or continuous oxygen supplementation to maintain oxygen saturation >90% - Acute illness on visit day or one day prior. |
Country | Name | City | State |
---|---|---|---|
n/a |
Lead Sponsor | Collaborator |
---|---|
Rambam Health Care Campus |
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Change in oxygen Uptake | Change in mount of oxygen consumed per amount of time measured during 15 minutes of an exercise test. | 3 days | |
Secondary | 6 Minute walk test | The distance an individual walked in 6 minutes. | 3 days | |
Secondary | Gross motor function measure score sheet (GMFM-88) | The patient is evaluated in the active performance of 88 physical tasks and the scoring range for each task ranges from 0=does not initiate, 1=initiates, 2=partially completes, 3=completes, NT=not tested. The total score is the sum of all tasks divided to the maximal potential score in percentage. Evaluation time ~ 30 minutes. | 3 days | |
Secondary | Spirometry | Pulmonary function as assessed by spirometry. Evaluation time - 5 minutes. | 3 days. |