Trial record 2 of 17 for:    "Albinism"

Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00808106
First received: December 12, 2008
Last updated: March 26, 2014
Last verified: March 2014
  Purpose

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 is considered isolated if it involves only tissues that are normally pigmented. The four known types of isolated oculocutaneous albinism (OCA-1 to OCA-4) are autosomal recessive disorders associated with specific genes. OCA-1 results from defects in the enzyme tyrosinase, which catalyzes the rate-limiting step in melanin synthesis. The precise functions of the genes associated with OCA2, OCA3 and OCA4 are not known. OCA-2 is caused by mutations in the OCA2 (or P) gene. OCA-3 and OCA-4 are rare, incompletely characterized conditions caused by the tyrosine-related protein 1 gene (TYRP1) and the SLC45A2 gene, respectively. Most OCA patients have two pathogenic mutations identified in an OCA-causing gene. In this protocol, we have 4 major goals. First, we want to clinically and comprehensively characterize OCA subtypes, especially OCA-1 and OCA-2, with respect to the degree of hypopigmentation, genetic mutations, and extent of ocular involvement. Second, we plan to study patients cultured melanocytes for variability in pigment formation related to genotype, and test treatments to increase pigmentation. Third, we expect to ascertain rare patients with hypopigmentation not due to known albinism-causing genes. Finally, we will acquire sufficient experience in the care of patients with albinism to become experts in this disorder. This expertise will be especially valuable for potential future clinical trials. We will clinically evaluate patients of all ethnicities; obtain cells, plasma and urine for future studies; perform mutation analysis on known OCA causing genes; and search for other genes responsible for OCA. Routine admissions will last 4-5 days and occur every two years.


Condition
Albinism
Oculocutaneous Albinism
Foveal Hypoplasia
Hypopigmentation
Nystagmus

Study Type: Observational
Official Title: Clinical, Cellular, and Molecular Investigations Into Oculocutaneous Albinism

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 300
Study Start Date: December 2008
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 deficits, and 2) involvement of both of the major developmental types of pigmented cells, i.e., melanocytes and retinal pigment epithelium. OCA is considered isolated if it involves only tissues that are normally pigmented. The four known types of isolated oculocutaneous albinism (OCA-1 to OCA-4) are autosomal recessive disorders associated with specific genes. OCA-1 results from defects in the enzyme tyrosinase, which catalyzes the rate-limiting step in melanin synthesis. The precise functions of the genes associated with OCA2, OCA3 and OCA4 are not known. OCA-2 is caused by mutations in the OCA2 (or P) gene. OCA-3 and OCA-4 are rare, incompletely characterized conditions caused by the tyrosine-related protein 1 gene (TYRP1) and the SLC45A2 gene, respectively. Most OCA patients have two pathogenic mutations identified in an OCA-causing gene. In this protocol, we have 4 major goals. First, we want to clinically and comprehensively characterize OCA subtypes, especially OCA-1 and OCA-2, with respect to the degree of hypopigmentation, genetic mutations, and extent of ocular involvement. Second, we plan to study patients cultured melanocytes for variability in pigment formation related to genotype, and test treatments to increase pigmentation. Third, we expect to ascertain rare patients with hypopigmentation not due to known albinism-causing genes. Finally, we will acquire sufficient experience in the care of patients with albinism to become experts in this disorder. This expertise will be especially valuable for potential future clinical trials. We will clinically evaluate patients of all ethnicities; obtain cells, plasma and urine for future studies; perform mutation analysis on known OCA causing genes; and search for other genes responsible for OCA. Routine admissions will last 4-5 days and occur every two years.

  Eligibility

Ages Eligible for Study:   1 Year to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

Patients will be considered to have a convincing diagnosis of OCA if they have cutaneous evidence of hypopigmentation plus:

A. Iris transillumination documented in writing or by photograph by an ophthalmologist; AND/OR

B. Evidence of characteristic axon-misrouting by visual evoked potential; AND/OR

C. Other visual deficits consistent with albinism, including nystagmus and/or foveal hypoplasia.

EXCLUSION CRITERIA:

A patient will be excluded if she/he:

A. Has been diagnosed with a known non-oculocutaneous disorder of hypopigmentation such as Hemansky-Pudlak Syndrome, Chediak-Higashi Syndrome, or Griscelli Syndrome.

B. Has been diagnosed with a known disorder of focal hypopigmentation such as Waardenburg syndrome.

C. Is too sick to travel to the NIH.

D. If an infant under one 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.

  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00808106

Contacts
Contact: David R Adams, M.D. (301) 402-6435 david.adams@nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: David R Adams, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00808106     History of Changes
Other Study ID Numbers: 090035, 09-HG-0035
Study First Received: December 12, 2008
Last Updated: March 26, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Albinism
Oculocutaneous Albinism
Pigmentation
Natural History
Vesical Biology

Additional relevant MeSH terms:
Albinism
Albinism, Oculocutaneous
Hypopigmentation
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

ClinicalTrials.gov processed this record on September 30, 2014