Protocol Number: 78-HG-0093

Title:

Use of Cysteamine in the Treatment of Cystinosis

Number:

78-HG-0093

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.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility 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.

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

Contact(s):

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

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

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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