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Use of Cysteamine in the Treatment of Cystinosis

This study is currently recruiting participants.
Verified February 2013 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
ClinicalTrials.gov Identifier:
NCT00359684
First received: August 1, 2006
Last updated: May 1, 2013
Last verified: February 2013
History of Changes
  Purpose

Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is no known cure for cystinosis, although kidney transplantation may help the renal failure and prolong survival. Both the kidney damage and growth failure are thought to be due to the accumulation of the amino acid cystine within the cells of the body. The cystine storage later damages other organs besides the kidneys, including the thyroid gland, pancreas, eyes, and muscle.

The drug cysteamine (Cystagon) is an oral medication given to patients with cystinosis prior to kidney transplantation. The drug works by reducing the level of cystine in the white blood cells and muscle tissue. The drug may also decrease levels of cystine in the kidneys and other tissues.

This study has several goals:

  1. Long-term surveillance of cysteamine (Cystagon) treated patients.
  2. Detection of new non-kidney complications of cystinosis.
  3. Maintenance of a patient population for genetic testing (mutational analysis) of the cystinosis gene.

Condition Intervention Phase
Cystinosis
 Drug: Cysteamine
 Phase 4

Study Type: Interventional
Study Design: Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Natural History Study of the Use of Cysteamine in the Treatment of Cystinosis

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Survival [ Time Frame: Lifetime ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:
  • Renal function, secondary complications of disease [ Time Frame: Decades ] [ Designated as safety issue: Yes ]

Estimated Enrollment: 300
Study Start Date: July 1978
Estimated Study Completion Date: December 2030
Estimated Primary Completion Date: December 2030 (Final data collection date for primary outcome measure)
Intervention Details:
    Drug: Cysteamine
    Cystine-depleting agent
Detailed Description:

Patients with nephropathic cystinosis have been treated with the cystine-depleting agent

cysteamine since 1978. This therapy prevents or delays renal deterioration, improves

growth, and depletes parenchymal tissues of cystine. Based largely upon data produced

through this protocol, the Food and Drug Administration approved cysteamine bitartrate

for use in pre-transplant cystinosis patients on August 15, 1994, although it is also taken

by post-transplant patients to prevent the non-renal complications of cystinosis.

Cysteamine is available as CystagonR through Mylan Pharmaceuticals in 50 mg and 150

mg capsules. By virtue of the current protocol, patients are admitted to the NIH Clinical

Center for investigations every two years, except for cases of great interest or urgency.

On each 1-3 day admission, a battery of tests is performed and the adequacy of cystine

depletion by cysteamine is monitored. This protocol will demonstrate the course of

cystinosis patients treated with cysteamine, describe new complications of the disorder in

poorly treated adults, and will maintain NHGRI expertise in the field. Its monitoring and

followup of patients over the course of 3 decades represents an invaluable contribution to

our understanding of the natural history of this rare disease.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

Diagnosis of cystinosis, whether classical or one of the variants with later onset or no renal complications.

Patients will be diagnosed as having cystinosis based upon a leucocyte cystine content greater than 1 nmol half-cystine/mg protein (normal, less than 0.2) and a typical clinical course.

EXCLUSION CRITERIA:

Inability to travel to the NIH.

Age less than one week.

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00359684

Contacts
Contact: William A Gahl, M.D. (301) 402-2739 bgahl@helix.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)     800-411-1222 ext TTY8664111010     prpl@mail.cc.nih.gov    
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Investigators
Principal Investigator: William A Gahl, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
NIH Clinical Center Detailed Web Page  This link exits the ClinicalTrials.gov site

Publications:

Responsible Party: National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
ClinicalTrials.gov Identifier: NCT00359684     History of Changes
Other Study ID Numbers: 780093, 78-HG-0093
Study First Received: August 1, 2006
Last Updated: May 1, 2013
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Cystinosis
Cystine
Lysomal Storage Disease
Mutation Analysis
Metabolic Disease

Additional relevant MeSH terms:
Cystinosis
Lysosomal Storage Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
 Cysteamine
Radiation-Protective Agents
Protective Agents
Physiological Effects of Drugs
Pharmacologic Actions

ClinicalTrials.gov processed this record on June 18, 2013