CataractNCT00001609
Studies of Families With Hereditary Cataracts
An observational study of Cataract and Congenital Anomaly, run by National Eye Institute (NEI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Cataract, Congenital Anomaly
- How many people
- 1,200 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 1996to Mar 2003
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Eye Institute (NEI)
Bethesda, Maryland, 20892
About this study
Official title: Clinical and Molecular Studies in Families With Congenital or Hereditary Cataracts
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.
Read the detailed description
Although the etiology of some secondary cataracts is becoming better understood and certain animal models have the promise to elucidate the relationships between lens crystallin and hereditary cataract, little is known about the causes of congenital cataracts in humans. Even the classification of different types of cataracts is cumbersome and imperfect. A better understanding of cataractogenesis will come through an understanding of the molecular components of the lens of the eye and the ways in which lesions of these components are manifested structurally and functionally as opacity of the lens. It is well known that cataracts exhibit marked genetic heterogeneity. In mice and humans, hereditary cataracts have been shown to result from lesions at many distinct loci and those cataracts corresponding to one locus can be morphologically heterogeneous, implying that environmental factors may modify the phenotype of the cataract which a molecular lesion causes. Nonetheless, molecular biological characterization of cataracts in the mouse and guinea pig has suggested that alterations in lens crystallins can cause hereditary cataracts making them reasonable candidate genes for causing hereditary cataracts in humans. In addition, it is apparent that hereditary lesions which mimic or contribute additively to environmental stresses known to cause cataracts might be candidate genes for causing hereditary cataracts. This knowledge increases the feasibility of genetic linkage studies and provides a rationale basis on which to begin the molecular analysis of naturally occurring hereditary cataracts. Therefore, it is the purpose of this protocol to concentrate upon hereditary cataracts.
- Conditions
- Cataract, Congenital Anomaly
- Keywords
- Linkage, Genetic Analysis, Lens, Opacity, Inherited, Linkage Analysis, Genomic DNA, Risk Prediction, Pedigree Analysis, Congenital Cataracts, Hereditary Cataracts
- Medical subject headings
- Cataract, Congenital Abnormalities
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 1999 (estimated)
- Study startOct 1996
- Study completionMar 2003
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for CataractStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 1,200 participants
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001609
- Sponsor's protocol ID
- 970009
- Other IDs
- 97-EI-0009
- Status last verified
- Mar 2003
- First submitted
- 3 Nov 1999
- Last updated
- 4 Mar 2008
- Results posted
- No
Publications
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.
PubMed 9497271Padma 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.
PubMed 7573044Scott 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.
PubMed 8190472
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2008. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Molecular Studies in Families With Congenital or Hereditary Cataracts
- ClinicalTrials.gov ID
- NCT00001609
- Acronym / sponsor ID
- 970009
- Conditions
- Cataract, Congenital Anomaly
- Keywords
- Linkage, Genetic Analysis, Lens, Opacity, Inherited, Linkage Analysis, Genomic DNA, Risk Prediction
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,200 participants
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- Oct 1996
- Study completion
- Mar 2003
- First posted
- 4 Nov 1999 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Although the etiology of some secondary cataracts is becoming better understood and certain animal models have the promise to elucidate the relationships between lens crystallin and hereditary cataract, little is known about the causes of congenital cataracts in humans. Even the classification of different types of cataracts is cumbersome and imperfect. A better understanding of cataractogenesis will come through an understanding of the molecular components of the lens of the eye and the ways in which lesions of these components are manifested structurally and functionally as opacity of the lens. It is well known that cataracts exhibit marked genetic heterogeneity. In mice and humans, hereditary cataracts have been shown to result from lesions at many distinct loci and those cataracts corresponding to one locus can be morphologically heterogeneous, implying that environmental factors may modify the phenotype of the cataract which a molecular lesion causes. Nonetheless, molecular biological characterization of cataracts in the mouse and guinea pig has suggested that alterations in lens crystallins can cause hereditary cataracts making them reasonable candidate genes for causing hereditary cataracts in humans. In addition, it is apparent that hereditary lesions which mimic or contribute additively to environmental stresses known to cause cataracts might be candidate genes for causing hereditary cataracts. This knowledge increases the feasibility of genetic linkage studies and provides a rationale basis on which to begin the molecular analysis of naturally occurring hereditary cataracts. Therefore, it is the purpose of this protocol to concentrate upon hereditary cataracts.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Mar 2008.
- Background: PubMed 9497271Hejtmancik 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.
- Background: PubMed 7573044Padma 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.
- Background: PubMed 8190472Scott 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cataract and Congenital Anomaly, run by National Eye Institute (NEI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Mar 2008. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00001609, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Mar 2008.