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Nitisinone for Type 1B Oculocutaneous Albinism

NCT01838655 · Status: COMPLETED · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 5

Last updated 2019-02-26

Study results available
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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:

* This study will last about 18 months. It requires eight outpatient visits, each about 3 months apart. Each visit will require 1 to 2 days of testing.
* Participants will be screened with a physical exam, eye exam, and medical history. They will have additional vision and neurological tests. They will be tested to see how their brain and retinas respond to light. They will also take hair and blood samples, and answer questions about diet.
* Participants will receive the study drug. They will take one pill a day for 1 year. They will keep track of the dose in a study diary.
* At the outpatient visits, participants will have the following tests:
* Medical history and physical exam
* Neurological and eye exams
* Retina function tests
* Tests of the skin and brain's response to light
* Blood and urine tests
* Dietary consultation
* Visual function questionnaire.
* After the end of the study, participants will return to the care of their regular eye doctor.

Conditions

Interventions

DRUG

Nitisinone

Oral dose of 2mg daily for 12 months.

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    collaborator NIH

  • National Eye Institute (NEI)

    lead NIH

Principal Investigators

  • Brian P Brooks, M.D. · National Eye Institute (NEI)

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-04-16
Primary Completion
2016-07-11
Completion
2017-02-07

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01838655 on ClinicalTrials.gov