Use of Cysteamine in the Treatment of Cystinosis

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00359684
Recruitment Status : Recruiting
First Posted : August 2, 2006
Last Update Posted : March 29, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:

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

Condition or disease Intervention/treatment Phase
Cystinosis Drug: Cysteamine Phase 4

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 cystinosis patients on August 15, 1994. Cysteamine is available as CystagonR through Mylan Pharmaceuticals in 50 mg and 150 mg capsules and as ProcysbiR in 75 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 demonstrates the course of cystinosis patients treated with cysteamine, describes new complications of the disorder in poorly treated adults, and maintains 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.

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 300 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Natural History Study of the Use of Cysteamine in the Treatment of Cystinosis
Study Start Date : July 6, 1978
Estimated Primary Completion Date : December 1, 2018
Estimated Study Completion Date : December 1, 2018

Intervention Details:
  • Drug: Cysteamine
    Cystine-depleting agent

Primary Outcome Measures :
  1. Survival [ Time Frame: Lifetime ]

Secondary Outcome Measures :
  1. Renal function, secondary complications of disease [ Time Frame: Decades ]

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.


Inability to travel to the NIH.

Age less than one week.

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 identifier (NCT number): NCT00359684

Contact: William A Gahl, M.D. (301) 402-2739

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 Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: William A Gahl, M.D. National Human Genome Research Institute (NHGRI)

Additional Information:
Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT00359684     History of Changes
Other Study ID Numbers: 780093
First Posted: August 2, 2006    Key Record Dates
Last Update Posted: March 29, 2018
Last Verified: November 24, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Lysomal Storage Disease
Mutation Analysis
Metabolic Disease

Additional relevant MeSH terms:
Lysosomal Storage Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Cystine Depleting Agents
Molecular Mechanisms of Pharmacological Action