NCT00001609

Brief Summary

The objective of this study is to discover the genes responsible for the development of hereditary cataracts in families. A cataract is clouding of the lens of the eye that obstructs the passage of light and may impair vision. Information from this study may provide a better understanding of why hereditary cataracts form and perhaps lead to the development of a test that can predict who will likely be affected and to what degree. Patients or family members of patients with inherited cataracts who participate in this study will be asked questions about their family history, especially concerning eye disease or cataracts, and a family tree will be drawn. They will undergo a complete eye examination, including photographs to document the clarity or opacity of the lens. In addition, a small blood sample will be drawn for use in gene mapping studies of inherited cataract.

Trial Health

87
On Track

Trial Health Score

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

Enrollment
1,200

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Oct 1996

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

October 1, 1996

Completed
3.1 years until next milestone

First Submitted

Initial submission to the registry

November 3, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

November 4, 1999

Completed
3.3 years until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2003

Completed
Last Updated

March 4, 2008

Status Verified

March 1, 2003

First QC Date

November 3, 1999

Last Update Submit

March 3, 2008

Conditions

CataractCongenital Anomaly

Keywords

LinkageGenetic AnalysisLensOpacityInheritedLinkage AnalysisGenomic DNARisk PredictionPedigree AnalysisCongenital CataractsHereditary Cataracts

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
The proband must have documentation of congenital or hereditary cataract. Patients with cataract due to radiation, steroid, or associated with other ocular diseases such as uveitis, retinitis pigmentosa etc. and age-related cataracts will be excluded.

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 (3)

  • Hejtmancik JF. The genetics of cataract: our vision becomes clearer. Am J Hum Genet. 1998 Mar;62(3):520-5. doi: 10.1086/301774. No abstract available.

    PMID: 9497271BACKGROUND

  • Padma T, Ayyagari R, Murty JS, Basti S, Fletcher T, Rao GN, Kaiser-Kupfer M, Hejtmancik JF. Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. Am J Hum Genet. 1995 Oct;57(4):840-5.

    PMID: 7573044BACKGROUND

  • Scott MH, Hejtmancik JF, Wozencraft LA, Reuter LM, Parks MM, Kaiser-Kupfer MI. Autosomal dominant congenital cataract. Interocular phenotypic variability. Ophthalmology. 1994 May;101(5):866-71. doi: 10.1016/s0161-6420(94)31246-2.

    PMID: 8190472BACKGROUND

MeSH Terms

Conditions

CataractCongenital Abnormalities

Condition Hierarchy (Ancestors)

Lens DiseasesEye DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

November 3, 1999

First Posted

November 4, 1999

Study Start

October 1, 1996

Study Completion

March 1, 2003

Last Updated

March 4, 2008

Record last verified: 2003-03

Locations

US(1)