NCT00808106

Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism

Completed Last updated 6 January 2020

What this trial tests

trial in Oculocutaneous Albinism in 206 participants. Completed in 31 December 2019.

Timeline

11 December 2008

Primary endpoint
31 December 2019

31 December 2019

Quick facts

Lead sponsor	National Human Genome Research Institute (NHGRI)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	206
Start date	11 December 2008
Primary completion	31 December 2019
Estimated completion	31 December 2019
Sites	1 location across United States

Conditions studied

• Oculocutaneous Albinism — all drugs for Oculocutaneous Albinism →

Sponsor

National Human Genome Research Institute (NHGRI)

Who can join

Adults 1 to 80, any sex, with Oculocutaneous Albinism. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Oculocutaneous albinism (OCA) is a term used to describe inherited forms of hypopigmentation associated with 1) variable levels of cutaneous hypopigmentation, ocular hypopigmentation, and visual deficits, and 2) involvement of both of the major developmental types of pigmented cells, i.e., melanocytes and retinal pigment epithelium. OCA that affects only usually-pigmented tissues is termed isolated OCA. There are currently seven albinism types (OCA-1 to OCA-7). With the exception of OCA-5, eash is associated with a specific gene and is inherited in an autosomal recessive manner OCA-5 is a proposed type of albinism associated with the chromosomal location 4q24. OCA-1 results from defects in the enzyme tyrosinase, which catalyzes the rate-limiting step in melanin synthesis. The precise functions of the remaining genes are not yet fully understood, but several may be associated with the regulation of pH in the subcellular organelle where melanin in manufactured-the melanosome. The majority of persons with OCA have two pathogenic mutations identified in a known OCA-causing gene, but a substantial minority to not. Ocular albinism (OA) is an X-linked disorder caused by mutations in the GPR143 gene. It affects the eye in a manner similar to OCA, but has minimal or no skin manifestations.

In this protocol, we have four major goals:

1. To clinically and comprehensively characterize OCA types 1 - 7, and OA, with respect to the degree of hypopigmentation, genetic mutations, extent of ocular involvement, and longitudinal variation.
2. To use study participants cultured melanocytes to study pigment biology, variability in pigment formation related to genotype, and response to proposed treatments. Some of this work will be performed collaboratively.
3. To recruit study participants with hypopigmentation not due to known albinismcausing genes.
4. To evaluate methods of quantifying eye pigmentation, skin pigmentation and other clinical parameters that may be usable as outcome measures in future treatment studies.

To achieve those goals, we will perform clinical evaluations of persons with OCA and OA at the NIH Clinical Center; obtain cultured cells, plasma, serum and urine for future studies; and, perform mutation analysis on known OCA and/or OA genes and search for other genes responsible for albinism. Routine admissions will last 3 - 4 days and occur every 2 - 3 years.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.