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NCT00808106 · ClinicalTrials.gov registry record
Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
A clinical trial of Oculocutaneous Albinism, sponsored by National Human Genome Research Institute (NHGRI).
- Completed
- Registry status
- 206
- Enrollment target
- 1
- Study location
NCT00808106 is a study of Oculocutaneous Albinism that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 206 participants. The trial reports 1 study location across 1 state.
The verdict
NCT00808106, a study of Oculocutaneous Albinism, has completed, sponsored by National Human Genome Research Institute (NHGRI).
- COMPLETED
- Registry status
- 206 participants
- Enrollment target
- 1
- Study location
Study Summary
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 mea
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center, 9000 Rockville Pike - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 206 participants |
| Start Date | 2008-12-11 |
| Est. Completion | 2019-12-31 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00808106
The ClinicalTrials.gov registry entry for NCT00808106 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 206 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 185 total studies on file at ClinicalTrials.gov.
The record links to 1 condition, with Oculocutaneous Albinism appearing as the primary indexed condition, and to 0 interventions.
NCT00808106 reports 1 study location spanning 1 distinct geographic area - top geographies include Maryland.
Frequently Asked Questions
What is clinical trial NCT00808106 about?
NCT00808106 is a clinical study titled "Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism". 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., melanocyt...
What is the current status of trial NCT00808106?
This trial is currently completed. The enrollment target is 206 participants. The study started on 2008-12-11. Estimated completion is 2019-12-31.
What conditions does trial NCT00808106 study?
This clinical trial studies the following conditions: Oculocutaneous Albinism.
Who is sponsoring clinical trial NCT00808106?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00808106 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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