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

Rambam Health Care Campus

Status: Unknown

Conditions: Pompe Disease Infantile-Onset

Treatments: Diagnostic Test: Cardiopulmonary exercise testing (CPET)

Study type: Observational

Funder types: Other

Identifiers

NCT04755751

RMB-045-18

Details and patient eligibility

About

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.

Full 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.

Enrollment: 4 estimated patients

Sex: All

Ages: 5 to 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Pompe patients >5 years that have been on alpha-glucosidase (GAA).

Exclusion criteria

• Oxygen saturation > 90% in room air without ventilatory assistance.
• Patients will be excluded if they required any invasive ventilation or if they required noninvasive ventilation while awake and upright

Trial design

4 participants in 1 patient group

Pediatric Pompe patients

Description:

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.

Treatment:

Diagnostic Test: Cardiopulmonary exercise testing (CPET)