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

Pompe Disease Infantile-Onset Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04755751
• Other study ID #: RMB-045-18
• Status: Recruiting
• Start date: June 24, 2018
• Est. completion date: January 1, 2024

Study information

• Verified date: February 2021
• Source: Rambam Health Care Campus
• Contact: Lea Bentur
• Phone: +972-4-7774360
• Email: l_bentur[@]rambam.health.gov.il
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 4
• Est. completion date: January 1, 2024
• Est. primary completion date: January 1, 2023
• Gender: All
• Age group: 5 Years to 18 Years

Eligibility

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

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Pompe Disease Infantile-Onset

Intervention

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

Locations

Country	Name	City	State
Israel	Rambam Medical Center	Haifa

Sponsors (1)

Lead Sponsor	Collaborator
Rambam Health Care Campus

Country where clinical trial is conducted

Israel, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Exercise capacity	Oxygen uptake evaluated by cardiopulmonary exercise testing (CPET)	1-6 years
Secondary	Six minute walk test	The distance gained after six minute of habitual walking.	1-6 years
Secondary	Motor function test	Motor function test (GMFM-88) as assessed by experience physiotherapy.	1-6 years
Secondary	GAA enzyme level	Self-collected blood samples (on a Guthrie card) for lysosomal enzyme acid alpha-glucosidase (GAA) blood levels.	1-6 years