Trial record 2 of 20 for:    "cystinosis"

Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis

This study has been completed.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ) Identifier:
First received: November 3, 1999
Last updated: August 20, 2013
Last verified: July 2013

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.

Condition Intervention Phase
Drug: Cysteamine
Phase 2

Study Type: Interventional
Study Design: Primary Purpose: Treatment
Official Title: Trial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Reduction of cystine corneal crystals. [ Time Frame: 1-year ] [ Designated as safety issue: No ]

Enrollment: 323
Study Start Date: April 1986
Study Completion Date: July 2013
Primary Completion Date: July 2013 (Final data collection date for primary outcome measure)
Intervention Details:
    Drug: Cysteamine
Detailed Description:

OBJECTIVE: The free thiol cysteamine depletes cystinotic leukocytes and other cells of cystine, whose accumulation is considered the cause of organ damage in cystinosis. This organ damage involves most tissues of the body. Cysteamine therapy improved growth and stabilized renal function in pre-renal transplant cystinotics, without substantial toxicity but there was no noticeable effect on cystine crystal accumulation in the cornea, most likely because of inadequate local cysteamine concentration in the cornea. Previous studies have shown the safety of cysteamine 0.5% topical solution in benzalkonium chloride and its efficacy in resolving the cystine corneal crystals. The main purpose of this protocol is to maintain topical cysteamine treatment in patients with nephropathic cystinosis until the drops are approved by the FDA. When the NDA for the Sigma-Tau standard formulation is granted, the present protocol (86-EI-0062) will be terminated.

STUDY POPULATION: Up to 300 adults and children over two years, who have confirmed diagnosis of cystinosis will be enrolled.

DESIGN: This is an open label treatment protocol. Eligible subjects will receive drops of cysteamine 0.5% topical solution in benzalkonium chloride hourly while awake in both eyes. The patients will be examined once a year for safety and efficacy considerations.

OUTCOME MEASURES: The main outcome measure will be the reduction of cystine corneal crystals.


Ages Eligible for Study:   2 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Patients must have a documented clinical diagnosis of cystinosis.

Patients should be 2 years old or older.


  1. Inability to travel to NIH for a baseline examination and yearly thereafter for follow-up.
  2. Inability to cooperate for slit-lamp exminations.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00001213

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Principal Investigator: Rachel J Bishop, M.D. National Eye Institute (NEI)
  More Information

Responsible Party: National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ) Identifier: NCT00001213     History of Changes
Other Study ID Numbers: 860062, 86-EI-0062
Study First Received: November 3, 1999
Last Updated: August 20, 2013
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Cysteamine Eye Drops
Nephropathic Cystinosis
Corneal Crystals

Additional relevant MeSH terms:
Nephrotic Syndrome
Lysosomal Storage Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Kidney Diseases
Urologic Diseases
Radiation-Protective Agents
Protective Agents
Physiological Effects of Drugs
Pharmacologic Actions processed this record on July 20, 2014