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

NCT04755751 | Unknown

• 1 other identifier: RMB-045-18
• Study Type: observational
• Target: 4
• Locations: 1 country
• Sites: 1

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.

Conditions

Pompe Disease Infantile-Onset

Outcome Measures

Primary Outcomes (1)

• Exercise capacity

  Oxygen uptake evaluated by cardiopulmonary exercise testing (CPET)

  1-6 years

Secondary Outcomes (3)

• Six minute walk test

  1-6 years

• Motor function test

  1-6 years

• GAA enzyme level

  1-6 years

Study Arms (1)

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.

Diagnostic Test: Cardiopulmonary exercise testing (CPET)

Interventions

Cardiopulmonary exercise testing (CPET) 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

Pediatric Pompe patients

Eligibility Criteria

• Age: 5 Years - 18 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Children with Pompe disease who are followed at Ruth Children's Hospital will be evaluated. Diagnosis is confirmed in all cases by deficient GAA activity in cultured fibroblasts or by Ultra Performance Liquid Chromatography - Tandem Mass Spectrometer (UPLC-MS/MS) in DBS and mutational analysis of genomic DNA, isolated from peripheral blood leukocyte.

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Rambam Health Care Campus: lead

Study Sites (1)

Rambam Medical Center

Haifa, Israel

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

self-collected blood samples (on a Guthrie card) for enzyme blood levels.

MeSH Terms

Interventions

Exercise Test

Intervention Hierarchy (Ancestors)

Heart Function Tests; Diagnostic Techniques, Cardiovascular; Diagnostic Techniques and Procedures; Diagnosis; Respiratory Function Tests; Diagnostic Techniques, Respiratory System; Ergometry; Investigative Techniques

Study Officials

• Lea Bentur

  Rambam

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Lea Bentur

CONTACT

+972-4-7774360; l_bentur@rambam.health.gov.il

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of Pediatric Pulmonary Institute

Study Record Dates

• First Submitted: February 10, 2021
• First Posted: February 16, 2021
• Study Start: June 24, 2018
• Primary Completion: January 1, 2023
• Study Completion: January 1, 2024
• Last Updated: February 16, 2021

Record last verified: 2021-02

Data Sharing

• IPD Sharing: Will not share

Locations

IL (1)