NCT04755751

Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease.

Acute and Long Term Evaluation of Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease.

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 4 (estimated)
• Sponsor: Rambam Health Care Campus · Academic / Other
• Sex: All
• Age: 5 Years – 18 Years
• Healthy volunteers: —

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.

Detailed 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.

Conditions

• Pompe Disease Infantile-Onset

Interventions

Type	Name	Description
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

Timeline

• Start date: 2018-06-24
• Primary completion: 2023-01-01
• Completion: 2024-01-01
• First posted: 2021-02-16
• Last updated: 2021-02-16

Locations

1 site across 1 country: Israel