Status:
COMPLETED
Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Oculocutaneous Albinism
Eligibility:
All Genders
1-80 years
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 defic...
Detailed 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 defic...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Patients will be screened by requesting copies of the following materials at the time they contact the program:
- An indication of ethnic background by the potential participant, which may be unknown .
- Photographs of the potential participant that give an indication of skin complexion/pigmentation and undyed hair color (if available).
- Ophthalmology or other visual specialist records documenting visual exam characteristics, potentially including iris transillumination, visual evoked potential and or characteristic eye findings (if available).
- Genetic testing results (if available).
- EXCLUSION CRITERIA:
- Exclusion from the study will be made based on one or more of the following criteria:
- 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.
- 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.
- Persons who are too sick to travel safely to the NIH Clinical Center.
- A judgment by the principal investigator that clinical resources are not available to enroll additional patients at any given time.
- Persons who are currently incarcerated.
- Adults who are incompetent to consent to the protocol.
- Persons who have been diagnosed with a known nonoculocutaneous disorder of hypopigmentation such as HemanskyPudlak Syndrome, ChediakHigashi Syndrome, or Griscelli Syndrome.
- Persons who have been diagnosed with a known disorder of focal hypopigmentation such as Waardenburg syndrome.
Exclusion
Key Trial Info
Start Date :
December 11 2008
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 31 2019
Estimated Enrollment :
206 Patients enrolled
Trial Details
Trial ID
NCT00808106
Start Date
December 11 2008
End Date
December 31 2019
Last Update
January 6 2020
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892