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Use of Cysteamine in the Treatment of Cystinosis

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ClinicalTrials.gov Identifier: NCT00359684
Recruitment Status : Recruiting
First Posted : August 2, 2006
Last Update Posted : May 25, 2023
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. 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.<TAB>

Condition or disease Intervention/treatment
Cystinosis Drug: Cysteamine

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.

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Study Type : Observational
Estimated Enrollment : 330 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Use of Cysteamine in the Treatment of Cystinosis
Actual Study Start Date : January 4, 1979

Group/Cohort Intervention/treatment
Patients with a diagnosis of cystinosis
Drug: Cysteamine
Cystine-depleting agent

Primary Outcome Measures :
  1. Serve as a source of knowledge and advice for individual cystinosis patients and for the community at large [ Time Frame: Follow-up can occur every two years ]
    Serve as a source of knowledge and advice for individual cystinosis patients and for the community at large

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Week and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a diagnosis of cystinosis

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.

Nonviable neonates and neonates of uncertain viability will be excluded.

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): NCT00359684

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Contact: William A Gahl, M.D. (301) 402-2739 gahlw@mail.nih.gov

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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
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Principal Investigator: William A Gahl, M.D. National Human Genome Research Institute (NHGRI)
Additional Information:
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Responsible Party: National Human Genome Research Institute (NHGRI)
ClinicalTrials.gov Identifier: NCT00359684    
Other Study ID Numbers: 780093
First Posted: August 2, 2006    Key Record Dates
Last Update Posted: May 25, 2023
Last Verified: January 27, 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: .pending
Supporting Materials: Study Protocol
Time Frame: pending
Access Criteria: pending

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Lysomal Storage Disease
Mutation Analysis
Metabolic Disease
Natural History
Additional relevant MeSH terms:
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Lysosomal Storage Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Cystine Depleting Agents
Molecular Mechanisms of Pharmacological Action