Protocol Details

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: 115 Years
Referral Letter Required	No
Population Exclusion(s)	None
Keywords	Cystinosis; Cystine; Lysomal Storage Disease; Mutation Analysis; Metabolic Disease; Natural History
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; ProCysBi) 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 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>

--Back to Top--

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.

Nonviable neonates and neonates of uncertain viability will be excluded.

--Back to Top--

Citations:

Florenzano P, Ferreira C, Nesterova G, Roberts MS, Tella SH, de Castro LF, Brown SM, Whitaker A, Pereira RC, Bulas D, Gafni RI, Salusky IB, Gahl WA, Collins MT. Skeletal Consequences of Nephropathic Cystinosis. J Bone Miner Res. 2018 Oct;33(10):1870-1880. doi: 10.1002/jbmr.3522. Epub 2018 Jul 20.

--Back to Top--

Contacts:

Principal Investigator	Referral Contact	For more information:
William A. Gahl, M.D. National Human Genome Research Institute (NHGRI) NIHBC 10 - CLINICAL CENTER BG RM 10C103 10 CENTER DR BETHESDA MD 20892 (301) 402-2739 gahlw@mail.nih.gov	William A. Gahl, M.D. National Human Genome Research Institute (NHGRI) NIHBC 10 - CLINICAL CENTER BG RM 10C103 10 CENTER DR BETHESDA MD 20892 (301) 402-2739 gahlw@mail.nih.gov	Office of Patient Recruitment National Institutes of Health Clinical Center (CC) Building 61, 10 Cloister Court Bethesda, Maryland 20892 Toll Free: 1-800-411-1222 Local Phone: 301-451-4383 TTY: TTY Users Dial 7-1-1 ccopr@nih.gov

Clinical Trials Number:

NCT00359684

--Back to Top--