Protocol Number: 86-EI-0062

Title:

Trial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis

Number:

86-EI-0062

Summary:

This study will continue to evaluate the long term safety and effectiveness of cysteamine eye drops for treating cystine crystals in the corneas of patients with cystinosis. These drops are not sold commercially and are available only through this study. New patients may enroll in the study to obtain them.

Cystinosis is an inherited disease that results in poor growth and kidney disease, among other things. The damage to the kidneys and other organs is thought to be due to accumulation of cystine inside the cells of various body tissues. This chemical also accumulates in the cornea-the covering of the eye over the pupil and iris. After 10 to 20 years, the corneas of some patients become so packed with crystals that the surfaces may become irregular, occasionally causing small, painful breaks.

Patients enrolled in a NIH study on cystinosis are receiving the drug cysteamine. Taken by mouth, this drug reduces cystine in some tissues, but not in the cornea, perhaps because it does not reach the corneal cells. The current study was begun to test whether cysteamine eye drops could prevent or reduce corneal cystine crystals in these patients. The drops have been very effective in removing crystals and reducing pain in patients who take the medication as directed. Patients who do not take the medication as prescribed do not benefit.

New patients in this study will undergo an eye examination that includes tests of retinal function and evaluation of visual acuity, night vision and color vision, age permitting. They will take cysteamine eye drops in both eyes every hour during waking hours. For the first week of treatment, patients will be followed daily for possible side effects. Thereafter, eye examinations will be done every 12 months, and photographs will be taken of the eyes to assess the effects of treatment.

Sponsoring Institute:

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Cystinosis should have been confirmed by elevated leukocyte or fibroblast cystine content.

Patients should be 2 years old or older.

EXCLUSION CRITERIA

a) Inability to travel to NIH for a baseline examination and yearly thereafter for follow-up.

b) Inability to cooperate for slit-lamp cornea photographs.

Special Instructions:

Currently Not Provided

Keywords:

Cysteamine Eye Drops

Nephropathic Cystinosis

Corneal Crystals

Benzalkonium

Toxicity

Efficacy

Recruitment Keyword(s):

Cystinosis

Condition(s):

Cystinosis

Investigational Drug(s):

Cysteamine

Investigational Device(s):

None

Intervention(s):

Drug: Cysteamine

Supporting Site:

National Eye Institute

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Removal of corneal crystals by topical cysteamine in nephropathic cystinosis

A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis

Gahl WA: Cystinosis coming of age. Adv. Pediatr. 1986; 33:95-126.

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