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

• Conditions: Pompe Disease Infantile-Onset
• Interventions: Diagnostic Test: Cardiopulmonary exercise testing (CPET)

• Registration Number: NCT04755751
• Lead Sponsor: Rambam Health Care Campus

Brief 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.

Study Timeline

• Study Start: 2018-06-24
• Status Verified: 2021-02
• Study First Submitted: 2021-02-10
• Study First Submitted QC: 2021-02-14
• Last Update Submitted: 2021-02-14
• Study First Posted: 2021-02-16
• Last Update Posted: 2021-02-16
• Primary Completion: 2023-01-01
• Study Completion: 2024-01-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 4

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Pediatric Pompe patients	Cardiopulmonary exercise testing (CPET)	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.

Primary Outcome Measures

Name	Time	Method
Exercise capacity	1-6 years	Oxygen uptake evaluated by cardiopulmonary exercise testing (CPET)

Secondary Outcome Measures

Name	Time	Method
Six minute walk test	1-6 years	The distance gained after six minute of habitual walking.
Motor function test	1-6 years	Motor function test (GMFM-88) as assessed by experience physiotherapy.
GAA enzyme level	1-6 years	Self-collected blood samples (on a Guthrie card) for lysosomal enzyme acid alpha-glucosidase (GAA) blood levels.

Trial Locations

Locations (1)

Rambam Medical Center; 🇮🇱 Haifa, Israel