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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04755751
Other study ID # RMB-045-18
Secondary ID
Status Recruiting
Phase
First received
Last updated
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
Health authority
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
Accepts healthy volunteers
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

Study Design


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
See also
  Status Clinical Trial Phase
Recruiting NCT05619900 - Registry of Patients Diagnosed With Lysosomal Storage Diseases
Recruiting NCT05083806 - MSOT in Pompe Disease N/A
Recruiting NCT05793307 - Evaluation of the Safety and Efficacy of Infantile-onset Pompe Disease Gene Therapy Drug Phase 1/Phase 2
Recruiting NCT04532047 - In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases Phase 1
Completed NCT00763932 - Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies Phase 2
Available NCT04327973 - Expanded Access for ATB200/AT2221 for the Treatment of IOPD