Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease

NCT01304875 | Unknown

• 2 other identifiers: CSMC17883U54NS065768
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

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).

Conditions

Fabry Disease

Keywords

Fabry disease; alpha-galactosidase deficiency; exercise; pulmonary

Outcome Measures

Primary Outcomes (1)

• Measurement of pulmonary function

  Research subjects' pulmonary function will be determined by FEF25-75, VO2 max, and treadmill studies.

  upon enrollment

Secondary Outcomes (1)

• Measurement of diastolic blood pressure

  upon enrollment

Eligibility Criteria

• Age: 8 Years - 18 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

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

You may not qualify if:

• Enzyme replacement therapy or an experimental therapy
• Inability to perform the tests
• Other, serious medical conditions that would impact the tests

Sponsors & Collaborators

• Cedars-Sinai Medical Center: lead
• Rare Diseases Clinical Research Network: collaborator
• National Center for Advancing Translational Sciences (NCATS): collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator
• Genzyme, a Sanofi Company: collaborator

Study Sites (1)

Cedars-Sinai Medical Center

Los Angeles, California, 90048, United States

RECRUITING

MeSH Terms

Conditions

Fabry Disease; Motor Activity

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Behavior

Study Officials

• William R Wilcox, MD, PhD

  Cedars-Sinai Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

William R Wilcox, MD, PhD

CONTACT

3104236673; william.wilcox@cshs.org

Catherine Quindipan, MS

CONTACT

310-423-9547; Catherine.Quindipan@cshs.org

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Pediatrics

Study Record Dates

• First Submitted: February 25, 2011
• First Posted: February 28, 2011
• Study Start: April 1, 2010
• Last Updated: June 27, 2013

Record last verified: 2013-06

Locations

US (1)