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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

4 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-06-24

Study Completion Date

2024-01-01

Brief Summary

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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.

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Detailed Description

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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

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Pompe Disease Infantile-Onset

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

OTHER

Study Groups

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Pediatric Pompe patients

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.

Cardiopulmonary exercise testing (CPET)

Intervention Type DIAGNOSTIC_TEST

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

Interventions

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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

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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

Minimum Eligible Age

5 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No