Albinism Clinical Trial
Official title:
A Pilot Study of Nitisinone in the Treatment of Oculocutaneous Albinism, Type 1B
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.
Objective: The primary objective of this study is to evaluate oral nitisinone as a treatment
that improves ocular pigmentation in adult participants with oculocutaneous albinism, type 1B
(OCA1B). Secondary objectives of this study are to determine whether the selected outcome
measures are robust enough to use in a larger trial and to assess whether oral nitisinone
improves visual function, skin pigmentation, and hair pigmentation in participants with
OCA1B.
Study Population: Five participants with OCA1B will be enrolled initially. However, up to an
additional three participants may be enrolled to account for participants who withdraw from
the study for any reason before the Month 12 visit.
Design: In this pilot, phase 1/2, single-site, prospective, open label trial, participants
will receive 2 mg of oral nitisinone daily for at least one year, and they will be followed
for at least 18 months. Ocular and non-ocular data will be collected at least every three
months, with the first follow-up visit occurring three months after the final baseline visit.
Participants will be required to have at least 8 outpatient visits at the NEI clinic over a
period of 18 months. This study has a common termination date and therefore may continue for
up to four years.
Outcome Measures: The primary outcome for the study is the absolute mean change in iris
pigmentation on an 8-point scale at 12 months as compared to baseline. Participants left and
right eyes will be analyzed. The absolute mean change in iris pigmentation for each eye on an
8-point scale at 3, 6 and 9 months compared to baseline will be assessed as secondary
outcomes. Other secondary outcomes include the absolute and percent change in
semi-quantitative iris pigmentation on image analysis; the absolute change in electronic
visual acuity (EVA) for each eye and binocular vision; the absolute change in contrast
sensitivity without glare, with medium glare, and with high glare for binocular vision; the
absolute change in full-field ERG measures for each eye; and the absolute and percent change
in melanin content in skin using skin reflectometry at 3, 6, 9 and 12 months as compared to
baseline; Qualitative changes in hair, skin, and fundus pigmentation at 3, 6, 9 and 12 months
as compared to previous visit will be assessed. The absolute and percent change in hair
melanin will also be assessed at 12 months as compared to baseline. The number and severity
of adverse events and the number of withdrawals will be assessed as safety outcomes.
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