Cystinosis Clinical Trial
Official title:
Safety and Efficacy Trial of a Proposed NDA Formulation of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis
This study will evaluate the safety and effectiveness of a new formulation of eye drops used
to treat cystine crystals that form in the corneas of patients with cystinosis. Cystinosis
is an inherited disease caused by a defective enzyme, in which excessive amounts of the
amino acid cystine accumulate in the body. Among others, symptoms include poor growth and
development of kidney failure. In addition, after 10 to 20 years, the cornea-the outside
covering of the eye over the iris and pupils-becomes so packed with cystine crystals that
small, painful breaks may develop.
This corneal condition is treated with cysteamine eye drops. This study is designed to
provide additional information about this medication that the Food and Drug Administration
requires before approving it for marketing. The study will examine, in two separate but
simultaneous investigations, the safety and effectiveness of a new cysteamine formulation.
In both studies, before treatment begins, patients will have a complete eye examination, and
photographs of the eye will be taken using a bright flash.
Safety Study
Children and adults currently enrolled in a cystinosis study at the National Institutes of
Health may participate in this trial. They will receive the current cysteamine formulation
in one eye and the new preparation in the other eye. The drops will be given every hour
during waking hours. Patients will be observed daily for the first week of treatment and
will be called at 2 weeks and 4 weeks to check on side effects, if any. At 6 months, they
will undergo a repeat eye examination. Patients (or their parents) will keep a daily diary
recording the condition of each eye.
Effectiveness Study
Children and adults from Ann Arbor, Michigan, LaJolla, California, and the NEI clinic may be
enrolled in this study. Participants will receive medication as described above for the
safety trial. They will be observed daily for the first week and will have repeat eye
examinations, including photographs, at months 3, 6, 9 and 12 to see if the crystals have
decreased. Patients will keep a daily diary of the condition of both eyes.
The primary purpose of this study is to evaluate the safety and efficacy of a new
formulation of cysteamine eye drops to treat children and adults with cystinosis and cystine
crystal accumulation in the cornea. The safety of this new formulation will be evaluated
among 30 children and adults with a history of cystinosis under treatment at the NIH with
the current preparation of cysteamine eye drops. Patients will be randomized to the current
preparation in one eye and the new formulation in the other eye. Vision, blurring, redness,
pain, irritation, and itching will be evaluated in each eye at Week 1, Week 2, Week 4, and
Month 6. Complete ophthalmic evaluation including corneal slit lamp examination with
photographs will be performed at baseline and 6 months at the NEI Clinical Center.
Efficacy will be evaluated among 15 patients (5 each from the NEI Clinical Center, Ann Arbor
Michigan, and La Jolla, California) who have not received cysteamine eye drops prior to
enrollment. Patients will be randomized to the current preparation in one eye and the new
formulation in the other eye. Vision, blurring, redness, pain, irritation, and itching will
be evaluated in each eye and a complete ophthalmic assessment including a corneal slit lamp
examination with photographs will be performed at baseline, Month 3, Month 6, Month 9, and
Month 12. The primary efficacy outcome measure will be the improvement in the new
formulation treated eye by 1.00 unit on a corneal photograph scale from 0.00 to 3.00 in 0.25
increments compared to the baseline grade. This scale grades the density and number of
crystals in the cornea. The safety and efficacy studies will be conducted concurrently.
;
Endpoint Classification: Safety Study, Primary Purpose: Treatment
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