An observational study in Pompe Disease Infantile-Onset, sponsored by Rambam Health Care Campus. Status unknown at 1 site in Israel. Open to participants aged 5 Years to 18 Years. Per ClinicalTrials.gov, last updated 2021-02-16.
Sponsored by Rambam Health Care Campus · Observational
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.
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.
151 studies on the registry are indexed under Glycogen Storage Disease Type II; 30 are open to participants now.
This study's planned enrollment of 4 is below the median of 50 across 62 observational studies indexed under Glycogen Storage Disease Type II.
Browse Glycogen Storage Disease Type II studies →Rambam Health Care Campus is the lead sponsor of 456 studies on the registry; 33 are open to participants now.
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Children with Pompe disease who are followed at Ruth Children's Hospital will be evaluated. Diagnosis is confirmed in all cases by deficient GAA activity in cultured fibroblasts or by Ultra Performance Liquid Chromatography - Tandem Mass Spectrometer (UPLC-MS/MS) in DBS and mutational analysis of genomic DNA, isolated from peripheral blood leukocyte.
Exclusion Criteria:
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.
Diagnostic Test: Cardiopulmonary exercise testing (CPET)
CPET using a cycle ergometer (COSMED, Rome, Italy) beginning with a no resistance warm up lasting 1 to 3 minutes and followed with an incrementing resistance adapted to the patient's functional capacities according to the examiner's free judgment and ranging from no resistance (20 Rounds Per Minute (RPM)/minute) 5 to 20 Watts/minute on ramps or by successive stages
Exercise capacity
Oxygen uptake evaluated by cardiopulmonary exercise testing (CPET)
Time frame: 1-6 years
Six minute walk test
The distance gained after six minute of habitual walking.
Time frame: 1-6 years
Motor function test
Motor function test (GMFM-88) as assessed by experience physiotherapy.
Time frame: 1-6 years
GAA enzyme level
Self-collected blood samples (on a Guthrie card) for lysosomal enzyme acid alpha-glucosidase (GAA) blood levels.
Time frame: 1-6 years
Plan to share: No — IPD is not planned to be available.
No publications or documents are linked to this record.
This study is status unknown, as verified in Feb 2021. You cannot join it, but the record below documents what was studied.
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