Use of Cysteamine in the Treatment of Cystinosis
2 other identifiers
observational
330
1 country
1
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; 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\>
Trial Health
Trial Health Score
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participants targeted
Target at P75+ for all trials
1 active site
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Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
January 4, 1979
CompletedFirst Submitted
Initial submission to the registry
August 1, 2006
CompletedFirst Posted
Study publicly available on registry
August 2, 2006
CompletedMay 1, 2026
April 13, 2026
August 1, 2006
April 30, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Serve as a source of knowledge and advice for individual cystinosis patients and for the community at large
Serve as a source of knowledge and advice for individual cystinosis patients and for the community at large
Follow-up can occur every two years
Study Arms (1)
Cystinosis
Patients with a diagnosis of cystinosis
Interventions
Eligibility Criteria
Patients with a diagnosis of cystinosis
You may qualify if:
- 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.
You may not qualify if:
- Inability to travel to the NIH.
- Age less than one week.
- Nonviable neonates and neonates of uncertain viability will be excluded.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Related Publications (1)
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.
PMID: 29905968BACKGROUND
Related Links
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
William A Gahl, M.D.
National Human Genome Research Institute (NHGRI)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
August 1, 2006
First Posted
August 2, 2006
Study Start
January 4, 1979
Last Updated
May 1, 2026
Record last verified: 2026-04-13
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- STUDY PROTOCOL
- Time Frame
- pending
- Access Criteria
- pending
pending