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Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00808106
Recruitment Status : Completed
First Posted : December 15, 2008
Last Update Posted : January 6, 2020
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief 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 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.

Condition or disease
Oculocutaneous Albinism

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Study Type : Observational
Actual Enrollment : 206 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical, Cellular, and Molecular Investigations Into Oculocutaneous Albinism
Actual Study Start Date : December 11, 2008
Actual Primary Completion Date : December 31, 2019
Actual Study Completion Date : December 31, 2019

Patients with albinism

Primary Outcome Measures :
  1. A [ Time Frame: Ongiong ]
    Collect data to refine existing knowledge about the range, course and severity of the visual, cutaneous, auditory and other potentialmanifestations of the various forms of OCA and of OA

  2. B [ Time Frame: Ongoing ]
    Conduct laboratory studies on patients cultured melanocytes and other biologic specimens to further understand the cell biology ofpigment formation relative to genetic mutation

  3. C [ Time Frame: Ongoing ]
    Pursue the discovery of novel molecular defects in patients who have albinism caused by mutations in pigmentation-related genes that have not yet been proven to be associated with human pigmentation disorders

  4. D [ Time Frame: Ongoing ]
    Search for and evaluate methods of quantifying eye pigmentation, skin pigmentation and other clinical parameters that may be usable as outcome measures in future treatment studies

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   1 Year to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with albinism

Patients will be screened by requesting copies of the following materials at the time they contact the program:

  1. An indication of ethnic background by the potential participant, which may be unknown .
  2. Photographs of the potential participant that give an indication of skin complexion/pigmentation and undyed hair color (if available).
  3. Ophthalmology or other visual specialist records documenting visual exam characteristics, potentially including iris transillumination, visual evoked potential and or characteristic eye findings (if available).
  4. Genetic testing results (if available).


Exclusion from the study will be made based on one or more of the following criteria:

  1. Significant evidence that the potential participant has either OCA1A or OCA2 with a typical presentation, AND has an ethnic background that is wellrepresented in the current study (proportion in study exceeding the proportion in the United States population).

    The rationale for this exclusion is that: 1) from a biologicaland clinicalresearch perspective, we have an adequate number of OCA1A/

    OCA2 cases in the current study population; and 2) that, despite this, persons with ethnicities that are underrepresented in the study may inform our understanding of populationlevel molecular patterns in OCA1A/ OCA2 and cultural implications of albinism.

  2. Persons who are under 1 year of age. This exclusion occurs because there is no urgency for a very early evaluation. Also, the Clinical Center staff and resources are more suited for the care of older children.
  3. Persons who are too sick to travel safely to the NIH Clinical Center.
  4. A judgment by the principal investigator that clinical resources are not available to enroll additional patients at any given time.
  5. Persons who are currently incarcerated.
  6. Adults who are incompetent to consent to the protocol.
  7. Persons who have been diagnosed with a known nonoculocutaneous disorder of hypopigmentation such as HemanskyPudlak Syndrome, ChediakHigashi Syndrome, or Griscelli Syndrome.
  8. Persons who have been diagnosed with a known disorder of focal hypopigmentation such as Waardenburg syndrome.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00808106

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
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Principal Investigator: David R Adams, M.D. National Human Genome Research Institute (NHGRI)
Additional Information:
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Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT00808106    
Other Study ID Numbers: 090035
First Posted: December 15, 2008    Key Record Dates
Last Update Posted: January 6, 2020
Last Verified: January 2020
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Oculocutaneous Albinism
Additional relevant MeSH terms:
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Albinism, Oculocutaneous
Eye Diseases, Hereditary
Eye Diseases
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Skin Diseases, Genetic
Pigmentation Disorders
Skin Diseases
Metabolic Diseases