NCT00001153

Brief Summary

To study the relationship between visual function and ocular (iris, retina/choroidal) pigmentation in patients with albinism and other hypomelanotic disorders. To identify the carrier state in relatives of patients with ocular albinism.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
130

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Jun 1976

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 1, 1976

Completed
23.4 years until next milestone

First Submitted

Initial submission to the registry

November 3, 1999

Completed
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2000

Completed
2.6 years until next milestone

First Posted

Study publicly available on registry

December 10, 2002

Completed
Last Updated

March 4, 2008

Status Verified

May 1, 1999

First QC Date

November 3, 1999

Last Update Submit

March 3, 2008

Conditions

AlbinismAlbinism, OcularAlbinism, Oculocutaneous

Keywords

AlbinismOcular AlbinismOculocutaneous AlbinismTyrosinase NegativeTyrosinase Positive

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Patients have been recruited into the study by referral from an ophthalmologist or pediatrician. Entrance into the study was dependent upon clinical evidence of decreased or absent pigmentation in skin, hair, and/or eyes. The definition was purposefully broad to include the broad range of phenotype variations and clinical heterogeneity. The purpose of the study id to be able to document iris and retina/choroidal pigmentation and correlated these finding with visual function.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

National Eye Institute (NEI)

Bethesda, Maryland, 20892, United States

Location

Related Publications (2)

  • Apkarian P, Shallo-Hoffmann J. VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study. Invest Ophthalmol Vis Sci. 1991 Aug;32(9):2653-61.

    PMID: 1651299BACKGROUND

  • Bouzas EA, Caruso RC, Drews-Bankiewicz MA, Kaiser-Kupfer MI. Evoked potential analysis of visual pathways in human albinism. Ophthalmology. 1994 Feb;101(2):309-14. doi: 10.1016/s0161-6420(13)31336-0.

    PMID: 8115151BACKGROUND

MeSH Terms

Conditions

AlbinismAlbinism, OcularAlbinism, Oculocutaneous

Condition Hierarchy (Ancestors)

Eye Diseases, HereditaryEye DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsSkin Diseases, GeneticHypopigmentationPigmentation DisordersSkin DiseasesSkin and Connective Tissue DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

November 3, 1999

First Posted

December 10, 2002

Study Start

June 1, 1976

Study Completion

May 1, 2000

Last Updated

March 4, 2008

Record last verified: 1999-05

Locations

US(1)