Use of Cysteamine in the Treatment of Cystinosis
| Status: | Recruiting |
|---|---|
| Conditions: | Anemia, Nephrology |
| Therapuetic Areas: | Hematology, Nephrology / Urology |
| Healthy: | No |
| Age Range: | Any - 127 |
| Updated: | 4/6/2019 |
| Start Date: | January 4, 1979 |
| Contact: | William A Gahl, M.D. |
| Email: | gahlw@helix.nih.gov |
| Phone: | (301) 402-2739 |
Natural History Study of the Use of Cysteamine in the Treatment of Cystinosis
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....
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.
2.
3.
the cystinosis gene.
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.
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.
- 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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