Protocol Details

Natural History Study of the Use of Cysteamine in the Treatment of Cystinosis

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	78-HG-0093
Sponsoring Institute	National Human Genome Research Institute (NHGRI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 Wk Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	We are particulary interested in unusual cases of cystinosis. Physicians/patients should contact Dr. Gahl to discuss specific case eligibility.
Keywords	Cystinosis; Cystine; Lysomal Storage Disease; Mutation Analysis; Metabolic Disease
Recruitment Keyword(s)	None
Condition(s)	Cystinosis
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	Drug: Cysteamine
Supporting Site	National Human Genome Research Institute

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.

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Eligibility

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.

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Citations:

Cysteamine therapy for children with nephropathic cystinosis

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

Cystinosis: Progress in a prototypic disease

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Contacts:

Principal Investigator	Referral Contact	For more information http://clinicalstudies.info.nih.gov.
William A. Gahl, M.D. National Cancer Institute (NCI) National Institutes of Health Executive Plaza South Room 7122 6120 Executive Boulevard Rockville, Maryland 20852 (301) 496-4375 tuckerp@mail.nih.gov	William A. Gahl, M.D. National Cancer Institute (NCI) National Institutes of Health Executive Plaza South Room 7122 6120 Executive Boulevard Rockville, Maryland 20852 (301) 496-4375 tuckerp@mail.nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00359684

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