Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional
Official Title: A Pilot Study of Nitisinone in the Treatment of Oculocutaneous Albinism, Type 1B
Brief Summary:
Background:
- Oculocutaneous albinism, type 1B (OCA1B) is a genetic disease caused by problems in the gene that makes tyrosine. Tyrosine is an amino acid needed to produce pigment in the skin, hair, and eyes. People with OCA1B have pale skin, white hair, and light-colored eyes. Pigment in the back of the eye helps vision, so people with OCA-1B often have visual problems. Researchers want to see if a drug called nitisinone can help improve eye pigmentation and vision in people with OCA1B. Nitisinone is approved for treating a related genetic disease that causes problems with tyrosine, so it may help people with OCA1B.
Objectives:
- To see if nitisinone can help improve eye pigmentation and vision in people with OCA1B.
Eligibility:
- Individuals at least 18 years of age who have OCA1B.
Design: