Working...
ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 28 of 103 for:    Pompe Disease

Cardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT03147664
Recruitment Status : Completed
First Posted : May 10, 2017
Last Update Posted : May 16, 2017
Sponsor:
Information provided by (Responsible Party):
Rambam Health Care Campus

Brief Summary:

Introduction: Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric Pompe patients.

Methods: Pompe patients (10-19 years) were evaluated before and two days after ERT using cardiopulmonary exercise testing (CPET), six minutes walking test (6MWT) and motor function test (GMFM-88).


Condition or disease
Enzyme Replacement Therapy in Pompe Disease

Detailed Description:

Pompe disease is an inherited autosomal recessive glycogen storage disease caused by partial or total deficiency of acid α-glucosidase (GAA), resulting in the accumulation of glycogen in the lysosomes of skeletal muscles, heart, liver and other tissues. There is an inverse correlation between the amount of residual GAA activity and disease severity. The clinical phenotype varies with regard to age of onset, organ involvement, and severity of progression. In 2006, enzyme replacement therapy (ERT) with recombinant human GAA (Genzyme Corporation, Cambridge MA, USA) was approved and, since then, decisive modification of the course of the disease has been reported. Clinical studies in infants showed that ERT led to improvement in cardiac, respiratory and skeletal muscle functions, with achievement of independent walking, higher levels of physical activity, and survival beyond infancy.

Exercise capacity significantly affects Pompe patients' clinical picture and quality of life [5]. However, data on the effects of ERT on physiological variables related to exercise capacity is scarce. Cardiopulmonary exercise testing (CPET) is a well-known procedure to assess exercise capacity in adults and children in healthy and chronic conditions. Little is known regarding exercise capacity in the pediatric Pompe population. Our aim was to evaluate the acute effect of ERT on exercise capacity and different physiological variables in pediatric Pompe patients.

Patients were evaluated before and two days after ERT (20mg/kg/EOW). Each evaluation included CPET, pulmonary function tests, 6MWT and GMFM-88. All tests were carried out by the same experienced physician, exercise physiologist, and physiotherapist.

Visit 1: Patients arrived at that hospital at 7:00 am, vital signs were collected and a complete neuromuscular evaluation was carried out (gross motor function measure score sheet (GMFM-88), 6MWT, pre-CPET questionnaire (demographics, physical activity level, risk assessment, asthma/atopy/smoking history, family history), pulmonary function tests and CPET. Following the evaluation, at approximately 9 am, the patient started infusion of ERT.

Visit 2: Two days following visit 1, the patient arrived at the hospital at 2:00 pm, vital signs were assessed and GMFM-88, 6MWT, pulmonary function tests, and CPET were performed.


Layout table for study information
Study Type : Observational
Actual Enrollment : 5 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Cardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe Disease
Actual Study Start Date : January 1, 2014
Actual Primary Completion Date : April 30, 2014
Actual Study Completion Date : March 30, 2017


Group/Cohort
Pediatric Pompe patients

Visit 1: Patients arrived at that hospital at 7:00 am, vital signs were collected and a complete neuromuscular evaluation was carried out (gross motor function measure score sheet (GMFM-88), 6MWT, pre-CPET questionnaire (demographics, physical activity level, risk assessment, asthma/atopy/smoking history, family history), pulmonary function tests and CPET. Following the evaluation, at approximately 9 am, the patient started infusion of ERT.

Visit 2: Two days following visit 1, the patient arrived at the hospital at 2:00 pm, vital signs were assessed and GMFM-88, 6MWT, pulmonary function tests, and CPET were performed.




Primary Outcome Measures :
  1. Change in oxygen Uptake [ Time Frame: 3 days ]
    Change in mount of oxygen consumed per amount of time measured during 15 minutes of an exercise test.


Secondary Outcome Measures :
  1. 6 Minute walk test [ Time Frame: 3 days ]
    The distance an individual walked in 6 minutes.

  2. Gross motor function measure score sheet (GMFM-88) [ Time Frame: 3 days ]
    The patient is evaluated in the active performance of 88 physical tasks and the scoring range for each task ranges from 0=does not initiate, 1=initiates, 2=partially completes, 3=completes, NT=not tested. The total score is the sum of all tasks divided to the maximal potential score in percentage. Evaluation time ~ 30 minutes.

  3. Spirometry [ Time Frame: 3 days. ]
    Pulmonary function as assessed by spirometry. Evaluation time - 5 minutes.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Pediatric Pompe patients diagnosed by a deficiency of acid alpha-glucosidase enzyme activity in dry blood spot and/or lymphocytes, followed by the study of the disease-causing mutations using DNA analysis of the GAA gene. Age ≥8 y/o, ERT ≥1 year, capable of cycling on a stationary bicycle.
Criteria

Inclusion Criteria:

  • Pompe disease diagnosed by a deficiency of acid alpha-glucosidase enzyme activity in dry blood spot and/or lymphocytes, followed by the study of the disease-causing mutations using DNA analysis of the GAA gene
  • Age ≥8 y/o
  • ERT ≥1 year
  • Capable of cycling on a stationary bicycle.

Exclusion Criteria:

  • Invasive ventilation
  • Continuous ventilation and/or continuous oxygen supplementation to maintain oxygen saturation >90%
  • Acute illness on visit day or one day prior.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03147664


Sponsors and Collaborators
Rambam Health Care Campus
Investigators
Layout table for investigator information
Principal Investigator: Lea Bentur, Prof. Rambam Health Care Campus

Layout table for additonal information
Responsible Party: Rambam Health Care Campus
ClinicalTrials.gov Identifier: NCT03147664     History of Changes
Other Study ID Numbers: 3190-RMB-CTIL
First Posted: May 10, 2017    Key Record Dates
Last Update Posted: May 16, 2017
Last Verified: May 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Rambam Health Care Campus:
pompe disease
exercise capacity
cardiopulmonary exercise testing

Additional relevant MeSH terms:
Layout table for MeSH terms
Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors