- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01136460
Genetic Testing in Primary Congenital Glaucoma Patients
Primary congenital glaucoma patients and their immediate relatives will undergo complete ophthalmic examination and an interview with a geneticist. A blood sample will be drown from all participants for DNA analysis.
The CYP1B1 gene coding sequences will be screened for all individuals. If no mutation or only one heterozygous mutation will be found in the CYP1B1 gene, screening for MYOC gene mutations will be performed.
Study Overview
Status
Conditions
Detailed Description
Primary congenital glaucoma (PCG) is usually present in the neonatal or
infantile period and is accompanied by corneal opacity and edema, buphthalmos, increased intraocular pressure, optic nerve cupping, and at times, ensuing severe visual impairment. The incidence of the disease varies significantly in different geographic regions and is more frequently found in certain ethnic groups, especially where consanguinity is prevalent. The incidence in Western countries has been reported to range from 1:5000 and 1:10000 births, and in populations where consanguinity is prevalent, such as among Slovakian Gypsies and Saudi Arabians, the incidence ranges from 1:1250 and 1:2500 births, respectively. PCG is believed to be an autosomal-recessive transmitted disease with incomplete penetrance. Three different loci have been mapped for it, i.e., GLC3A on chromosome 2p21, GLC3B on 1p36.2 and GLC3C on 14q24.3. The major gene that currently has been identified to be associated with PCG is the CYP1B1 gene at locus GLC3A, which encodes a member of the cytochrome P450. The frequency of mutations in the CYP1B1 gene in PCG patients varies in different geographic locations and ethnic groups. For example, mutations in the CYP1B1 gene are found in 33% of patients in Japan and Indonesia, while among Saudi Arabian and Slovakian Gypsy patients, the incidence rises to 94% and 100%, respectively. Mutations in myocilin (MYOC) have also been associated with PCG.
Determining the presence of CYP1B1 mutations in PCG patients will improve our ability to counsel parents regarding cause, inheritance and the risk of it in future offspring.
The aim of the present study is to characterize the phenotype and determine the role of CYP1B1 and MYOC mutations in PCG in Israeli populations
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Alvit Wolf, MD
- Phone Number: 972-4-8250419
- Email: dr.alvit@gmail.com
Study Locations
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Haifa, Israel, 34362
- Recruiting
- Carmel Medical Center
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Contact:
- Zina Goldbaum, Mrs
- Phone Number: 972-4-8250419
- Email: zinago@clalit.org.il
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Sub-Investigator:
- Wolf Alvit, MD
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Primary congenital glaucoma pediatric patients
- Glaucoma that was diagnosed within the first 12 months of their life
- Primary congenital glaucoma pediatric patients's parents
Exclusion Criteria:
- any other ocular or systemic diseases
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Retrospective
Cohorts and Interventions
Group / Cohort |
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Primary congenital glaucoma
Primary congenital glaucoma patients and their immediate relatives
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Mutations in the CYP1B1 gene
Time Frame: one year
|
Mutations in the CYP1B1 gene were detected in 12 of 26 (46%) families with PCG (5 Muslim Arab, 5 Druze, 2 Jewish).
Jewish families had compound heterozygous mutations, i.e. an Ashkenazi family had mutations in the CYP1B1 gene (Arg368His and R48G, A119S and L432V haplotypes), and an Ashkenazi-Sephardic family had a mutation on the CYP1B1 gene (1908delA, Sephardic) with a second missense mutation on the MYOC gene (R76K, Ashkenazi).
Muslim Arabs and Druze tended to have a more severe phenotype than did the Jews.
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one year
|
Collaborators and Investigators
Sponsor
Publications and helpful links
Study record dates
Study Major Dates
Study Start
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- CMC052005CTIL
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