ColobomaNCT00368004
Family Studies of Uveal Coloboma
An observational study of Coloboma, run by National Eye Institute (NEI) at 1 site in United States.
Trial summary
This study will identify the genes responsible for uveal coloboma, an abnormal development of the eye caused by incomplete closure of a normally-occurring gap in the eye (the optic fissure) after the fifth week of life in a human embryo. Read more about this study
- Who is it for?
- Ages Up to 100 years
- Conditions the study is for
- Coloboma
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 28 Jul 2006to 15 Apr 2013
- 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 Up to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- The participant must have any recognizeable form of inherited coloboma.
- The participant must be a genetically informative member of a family where more than one person is affected by typical uveal coloboma.
- The participant must be able to comply with the protocol and provide a blood sample.
Who cannot join
- 1. The participant has any syndromic form of coloboma likely due to mutations in a known gene.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
This study will identify the genes responsible for uveal coloboma, an abnormal development of the eye caused by incomplete closure of a normally-occurring gap in the eye (the optic fissure) after the fifth week of life in a human embryo. There have been studies of families in which more than one person has been affected by this disorder. Coloboma occurs in about 1 of 10,000 live births and may cause significant vision loss. Researchers seek a better understanding of the genes responsible for this disorder.
Adults and children who have more than one member of the family with uveal coloboma may be eligible for this study. Patients will undergo a detailed medical history and eye examination appropriate for their age. The pupils will be dilated, through the use of eye drops. Dilation will continue for 4 to 6 hours, and wearing of sunglasses can reduce temporary glare that many patients may experience in brightly lit areas. In addition, pictures will be taken of the front or back of the eye, a procedure that also involves dilation of the pupils. Patients who have coloboma will undergo a complete physical examination. Blood samples will be collected, with a total of about 2 tablespoons from patients ages 10 and older and about 1 teaspoon for each 5 pounds of body weight for younger patients. Also, patients with coloboma may be asked to undergo X-rays , ultrasound, or other tests that are medically indicated.
To have enough DNA to study, the researchers may create a cell line to grow more DNA. Laboratory samples will be coded so that there is no identifying information about participants in this study. No other testing or research will be done on blood samples collected unless patients give permission. The researchers will not provide information about patients' health to other people without your express permission.
Read the detailed description
Objective: To describe phenotypes and find genes causing a developmental and potentially blinding eye condition, uveal coloboma.
Study population: Families where more than one family member has uveal coloboma. Both affected and genetically informative, unaffected members of the family will be recruited.
Design: Observational study.
Outcome measures: Clinical examination, genetic mapping and mutation identification.
- Conditions
- Coloboma
- Keywords
- Coloboma, Genetics, Optic Nerve Coloboma, Chorioretinal Coloboma, Iris Coloboma, Uveal Coloboma
- Medical subject headings
- Coloboma, Coloboma of optic nerve
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Aug 2006 (estimated)
- Study start28 Jul 2006
- Study completion15 Apr 2013
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 ColobomaStudies 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
- 100 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
- Investigators
- Brian P Brooks, M.D., Principal investigator, National Eye Institute (NEI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00368004
- Sponsor's protocol ID
- 060230
- Other IDs
- 06-EI-0230
- Status last verified
- 15 Apr 2013
- First submitted
- 23 Aug 2006
- Last updated
- 17 Dec 2019
- Results posted
- No
Publications
Maumenee IH, Mitchell TN. Colobomatous malformations of the eye. Trans Am Ophthalmol Soc. 1990;88:123-32; discussion 133-5. No abstract available.
PubMed 2095017Ravine D, Ragge NK, Stephens D, Oldridge M, Wilkie AO. Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate. Am J Med Genet. 1997 Oct 17;72(2):227-36. doi: 10.1002/(sici)1096-8628(19971017)72:23.0.co;2-p.
PubMed 9382148Zlotogora J, Legum C, Raz J, Merin S, BenEzra D. Autosomal recessive colobomatous microphthalmia. Am J Med Genet. 1994 Feb 1;49(3):261-2. doi: 10.1002/ajmg.1320490302.
PubMed 8209881
Study at a glance
From the registry record, last updated by the sponsor on 17 Dec 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Family Studies of Uveal Coloboma
- ClinicalTrials.gov ID
- NCT00368004
- Acronym / sponsor ID
- 060230
- Conditions
- Coloboma
- Keywords
- Coloboma, Genetics, Optic Nerve Coloboma, Chorioretinal Coloboma, Iris Coloboma, Uveal Coloboma
- Study type
- Observational
- Recruitment status
- Terminated
- Enrolment
- 100 participants (actual)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 28 Jul 2006
- Study completion
- 15 Apr 2013
- First posted
- 24 Aug 2006 (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.
This study will identify the genes responsible for uveal coloboma, an abnormal development of the eye caused by incomplete closure of a normally-occurring gap in the eye (the optic fissure) after the fifth week of life in a human embryo. There have been studies of families in which more than one person has been affected by this disorder. Coloboma occurs in about 1 of 10,000 live births and may cause significant vision loss. Researchers seek a better understanding of the genes responsible for this disorder.
Adults and children who have more than one member of the family with uveal coloboma may be eligible for this study. Patients will undergo a detailed medical history and eye examination appropriate for their age. The pupils will be dilated, through the use of eye drops. Dilation will continue for 4 to 6 hours, and wearing of sunglasses can reduce temporary glare that many patients may experience in brightly lit areas. In addition, pictures will be taken of the front or back of the eye, a procedure that also involves dilation of the pupils. Patients who have coloboma will undergo a complete physical examination. Blood samples will be collected, with a total of about 2 tablespoons from patients ages 10 and older and about 1 teaspoon for each 5 pounds of body weight for younger patients. Also, patients with coloboma may be asked to undergo X-rays , ultrasound, or other tests that are medically indicated.
To have enough DNA to study, the researchers may create a cell line to grow more DNA. Laboratory samples will be coded so that there is no identifying information about participants in this study. No other testing or research will be done on blood samples collected unless patients give permission. The researchers will not provide information about patients' health to other people without your express permission.
Detailed description
Objective: To describe phenotypes and find genes causing a developmental and potentially blinding eye condition, uveal coloboma.
Study population: Families where more than one family member has uveal coloboma. Both affected and genetically informative, unaffected members of the family will be recruited.
Design: Observational study.
Outcome measures: Clinical examination, genetic mapping and mutation identification.
Study design
Who may qualify
- Ages
- Up to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- The participant must have any recognizeable form of inherited coloboma.
- The participant must be a genetically informative member of a family where more than one person is affected by typical uveal coloboma.
- The participant must be able to comply with the protocol and provide a blood sample.
Key exclusion criteria (1 listed)
- 1. The participant has any syndromic form of coloboma likely due to mutations in a known gene.
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 was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Dec 2019.
- Background: PubMed 2095017Maumenee IH, Mitchell TN. Colobomatous malformations of the eye. Trans Am Ophthalmol Soc. 1990;88:123-32; discussion 133-5. No abstract available.
- Background: PubMed 9382148Ravine D, Ragge NK, Stephens D, Oldridge M, Wilkie AO. Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate. Am J Med Genet. 1997 Oct 17;72(2):227-36. doi: 10.1002/(sici)1096-8628(19971017)72:23.0.co;2-p.
- Background: PubMed 8209881Zlotogora J, Legum C, Raz J, Merin S, BenEzra D. Autosomal recessive colobomatous microphthalmia. Am J Med Genet. 1994 Feb 1;49(3):261-2. doi: 10.1002/ajmg.1320490302.
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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.
Brian P Brooks, M.D. principal investigator
National Eye Institute (NEI)
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 Coloboma, 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.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 17 Dec 2019. 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 was stopped early. Results are not available in the source record.
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 NCT00368004, 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 17 Dec 2019.