CystinosisNCT00359684
Use of Cysteamine in the Treatment of Cystinosis
An observational study of Cystinosis, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 week to 115 years
- Conditions the study is for
- Cystinosis
- What is being tested?
- Cysteamine
- How many people
- 330 participants
- Where
- 1 siteUnited States
- Study dates
- 4 Jan 1979to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 week to 115 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with a diagnosis of cystinosis
Who may be able to join
- 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.
Who cannot join
- Inability to travel to the NIH.
- Age less than one week.
- Nonviable neonates and neonates of uncertain viability will be excluded.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
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.
Read more
This study has several goals:
- Long-term surveillance of cysteamine treated patients.
- Detection of new non-kidney complications of cystinosis.
- Maintenance of a patient population for genetic testing (mutational analysis) of the cystinosis gene.<TAB>
Read the 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.
- Conditions
- Cystinosis
- Being tested
- Cysteamine
- Keywords
- Cystinosis, Cystine, Lysomal Storage Disease, Mutation Analysis, Metabolic Disease, Natural History
- Medical subject headings
- Cystinosis, Metabolic Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
CysteamineDrug
Cystine-depleting agent
| Study group | Role | What they receive |
|---|---|---|
| Cystinosis | Patients with a diagnosis of cystinosis Receives: Drug: Cysteamine |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: Follow-up can occur every two years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Aug 2006 (estimated)
- Study start4 Jan 1979
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for CystinosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 330 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- William A Gahl, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00359684
- Sponsor's protocol ID
- 780093
- Other IDs
- 78-HG-0093
- Status last verified
- 8 Sep 2026
- First submitted
- 1 Aug 2006
- Last updated
- 16 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: pending
Publications
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.
PubMed 29905968
Study at a glance
From the registry record, last updated by the sponsor on 16 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Use of Cysteamine in the Treatment of Cystinosis
- ClinicalTrials.gov ID
- NCT00359684
- Acronym / sponsor ID
- 780093
- Conditions
- Cystinosis
- Keywords
- Cystinosis, Cystine, Lysomal Storage Disease, Mutation Analysis, Metabolic Disease, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 330 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 4 Jan 1979 (actual)
- First posted
- 2 Aug 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- Long-term surveillance of cysteamine treated patients.
- Detection of new non-kidney complications of cystinosis.
- Maintenance of a patient population for genetic testing (mutational analysis) of the cystinosis gene.<TAB>
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cystinosis | – | Drug: CysteaminePatients with a diagnosis of cystinosis |
Who may qualify
- Ages
- 1 week to 115 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with a diagnosis of cystinosis
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (3 listed)
- Inability to travel to the NIH.
- Age less than one week.
- Nonviable neonates and neonates of uncertain viability will be excluded.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| CysteamineCystine-depleting agent | Drug | Cystinosis |
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Sep 2026.
- Background: PubMed 29905968Florenzano 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.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. pending
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
William A Gahl, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cystinosis, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 16 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact William A Gahl, M.D. ((301) 402-2739, gahlw@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00359684, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Sep 2026.