Trial record 6 of 95 for:    "Fabry disease"

Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2013 by Cedars-Sinai Medical Center
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
William Wilcox, Cedars-Sinai Medical Center
ClinicalTrials.gov Identifier:
NCT01304875
First received: February 25, 2011
Last updated: June 25, 2013
Last verified: June 2013
  Purpose

When to start children with Fabry disease on therapy is controversial because of its expense and inconvenience. Many Fabry children complain of exercise intolerance. In adults, the investigators have found decreased lung function and ability to exercise on a treadmill. Whether or not lung function and exercise capacity is abnormal in children is unknown. While lung function and exercise tests are commonly part of routine evaluations for adults with Fabry, they are not yet for children.

The objective of the proposed study is to more accurately define the lung and exercise abnormalities in a group of 20 boys from 8-18 years of age with Fabry disease who have not been treated with enzyme replacement therapy (Fabrazyme).


Condition
Fabry Disease

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease

Resource links provided by NLM:


Further study details as provided by Cedars-Sinai Medical Center:

Primary Outcome Measures:
  • Measurement of pulmonary function [ Time Frame: upon enrollment ]
    Research subjects' pulmonary function will be determined by FEF25-75, VO2 max, and treadmill studies.


Secondary Outcome Measures:
  • Measurement of diastolic blood pressure [ Time Frame: upon enrollment ]
    The maximum decrease in diastolic blood pressure with exercise will be compared to baseline diastolic blood pressure.


Estimated Enrollment: 20
Study Start Date: April 2010
Detailed Description:

Fabry disease is due to an alteration in the genetic material (DNA) that causes a deficiency of the alpha-galactosidase A enzyme. This enzyme aids in the breakdown and elimination of certain types of fatty substances called glycolipids. These glycolipids are normally present within the body in most cells. When alpha-galactosidase A is lacking, these glycolipids build up in various tissues such as the eye, liver, kidney, skin, muscle, heart, and blood vessels. The build up of glycolipid levels in these tissues, particularly globotriaosylceramide (GL-3), is thought to cause the clinical symptoms that are associated with Fabry disease. Fabry disease causes chronic kidney damage leading to a need for dialysis or kidney transplantation, chronic heart damage leading to abnormal heart rhythms and heart attacks and strokes at an early age, nervous system damage leading to chronic pain, and a premature death. Because the gene for Fabry is on the X chromosome (men have only one X chromosome while women have two), most patients with symptoms of Fabry are men but many women have symptoms that may be as severe as men. There is currently a FDA approved treatment available that treats many of the symptoms of Fabry, but it involves intravenous infusions every other week and is very expensive.

When to start children on therapy is controversial because of its expense and inconvenience. Children with significant pain or gastrointestinal problems are started on therapy immediately, otherwise not until they are at least teenagers. Increasing evidence suggests that even without overt symptoms, significant, irreversible damage may be occurring in childhood. However, determining whether such damage is present or not requires biopsies. There are no simple measures of disease severity.

Many Fabry children complain of exercise intolerance. In adults, the investigators have found decreased lung function and ability to exercise on a treadmill. Whether or not lung function and exercise capacity is abnormal in children is unknown. While lung function and exercise tests are commonly part of routine evaluations for adults with Fabry, they are not yet for children.

The objective of the proposed study is to more accurately define the lung and exercise abnormalities in a group of 20 boys from 8-18 years of age with Fabry disease who have not been treated with enzyme replacement therapy (Fabrazyme). This will be done by several breathing tests and exercising on a treadmill. If the breathing tests are abnormal, then testing would serve as an easy way to evaluate children and help decide when therapy should be started and monitor the effectiveness of therapy.

Each person that consents to participate in the study will be required to commit to a single study visit that will last approximately 4 hours at Cedars-Sinai Medical Center. The participant will be expected to wear loose fit clothing and comfortable athletic footwear.

As part of the research, participants will be asked to participate in the following tests:

  1. A pulmonary function test
  2. Exercise test. Results will be forwarded to each participant's primary care physician.

All subjects must have previously been enrolled in the Fabry Registry and have the recommended standard of care assessments in order to be eligible for this pilot study.

  Eligibility

Ages Eligible for Study:   8 Years to 18 Years
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Boys between ages 8 and 18 years of age with Fabry disease not receiving enzyme replacement therapy or an experimental therapy.

Criteria

Inclusion Criteria:

  • Fabry disease
  • Male
  • Between 8-18 years of age
  • Enrolled in Fabry registry and have standard assessments

Exclusion Criteria:

  • Enzyme replacement therapy or an experimental therapy
  • Inability to perform the tests
  • Other, serious medical conditions that would impact the tests
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01304875

Contacts
Contact: William R Wilcox, MD, PhD 3104236673 william.wilcox@cshs.org
Contact: Catherine Quindipan, MS 310-423-9547 Catherine.Quindipan@cshs.org

Locations
United States, California
Cedars-Sinai Medical Center Recruiting
Los Angeles, California, United States, 90048
Principal Investigator: William R Wilcox, MD, PhD         
Sponsors and Collaborators
Cedars-Sinai Medical Center
Rare Diseases Clinical Research Network
Genzyme, a Sanofi Company
Investigators
Principal Investigator: William R Wilcox, MD, PhD Cedars-Sinai Medical Center
  More Information

Additional Information:
No publications provided

Responsible Party: William Wilcox, Professor of Pediatrics, Cedars-Sinai Medical Center
ClinicalTrials.gov Identifier: NCT01304875     History of Changes
Other Study ID Numbers: CSMC17883, U54NS065768
Study First Received: February 25, 2011
Last Updated: June 25, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Cedars-Sinai Medical Center:
Fabry disease
alpha-galactosidase deficiency
exercise
pulmonary

Additional relevant MeSH terms:
Fabry Disease
Lung Diseases
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Respiratory Tract Diseases

ClinicalTrials.gov processed this record on August 28, 2014