Clinical Trial Details
— Status: Recruiting
Administrative data
NCT number |
NCT04755751 |
Other study ID # |
RMB-045-18 |
Secondary ID |
|
Status |
Recruiting |
Phase |
|
First received |
|
Last updated |
|
Start date |
June 24, 2018 |
Est. completion date |
January 1, 2024 |
Study information
Verified date |
February 2021 |
Source |
Rambam Health Care Campus |
Contact |
Lea Bentur |
Phone |
+972-4-7774360 |
Email |
l_bentur[@]rambam.health.gov.il |
Is FDA regulated |
No |
Health authority |
|
Study type |
Observational
|
Clinical Trial Summary
Our aims are to investigate the acute and long term effect of ERT on exercise capacity;
comparing the effect of different ERT dosages (as prescribed by the clinician according to
clinical judgment) and assessing the relationship between enzyme blood level and exercise
capacity. Such evaluation may allow a more objective quantification of the response to ERT.
Description:
Pompe disease is a rare autosomal recessive metabolic myopathy caused by reduced or absence
activity of the lysosomal enzyme acid alpha-glucosidase (GAA). Enzyme replacement therapy
(ERT) with Myozyme has significantly improved the prospect of patients with infantile Pompe
disease (IPD). Most IPD patients show clinical improvement on therapy, but deteriorate at
different time points, raising the possibility that increasing drug delivery might halt the
progression of the disease. Data on the effects of ERT therapy on physiological variables
related to exercise tolerance is scarce.
Our aims are to investigate the acute and long term effect of ERT on exercise capacity;
comparing the effect of different ERT dosages (as prescribed by the clinician according to
clinical judgment) and assessing the relationship between enzyme blood level and exercise
capacity. Such evaluation may allow a more objective quantification of the response to ERT.
Methods: A retrospective - prospective study evaluating pediatric patients with Pompe before
and 2 days after ERT on multiple occasions and different dosing. Evaluation included
cardiopulmonary exercise testing (CPET), 6 minute-walking test (6MWT), motor function test
(GMFM-88) and self-collected blood samples (on a Guthrie card) for enzyme blood levels.