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Genetic Testing in Primary Congenital Glaucoma Patients

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ClinicalTrials.gov Identifier: NCT01136460
Recruitment Status : Recruiting
First Posted : June 3, 2010
Last Update Posted : September 18, 2014
Sponsor:
Information provided by (Responsible Party):
Orna Geyer, Carmel Medical Center

Tracking Information
First Submitted Date June 2, 2010
First Posted Date June 3, 2010
Last Update Posted Date September 18, 2014
Study Start Date May 2006
Estimated Primary Completion Date May 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: June 2, 2010)
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.
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT01136460 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Genetic Testing in Primary Congenital Glaucoma Patients
Official Title Genetic Testing in Primary Congenital Glaucoma Patients
Brief Summary

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.

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 Observational
Study Design Observational Model: Case-Only
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
blood samples
Sampling Method Non-Probability Sample
Study Population Primary congenital glaucoma patients and their immediate relatives
Condition Congenital Glaucoma
Intervention Not Provided
Study Groups/Cohorts Primary congenital glaucoma
Primary congenital glaucoma patients and their immediate relatives
Publications * Geyer O, Wolf A, Levinger E, Harari-Shacham A, Walton DS, Shochat C, Korem S, Bercovich D. Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population. Am J Ophthalmol. 2011 Feb;151(2):263-71.e1. doi: 10.1016/j.ajo.2010.08.038. Epub 2010 Dec 18.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: June 2, 2010)
400
Original Estimated Enrollment Same as current
Estimated Study Completion Date May 2020
Estimated Primary Completion Date May 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts
Contact: Alvit Wolf, MD 972-4-8250419 dr.alvit@gmail.com
Listed Location Countries Israel
Removed Location Countries  
 
Administrative Information
NCT Number NCT01136460
Other Study ID Numbers CMC052005CTIL
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Orna Geyer, Carmel Medical Center
Study Sponsor Carmel Medical Center
Collaborators Not Provided
Investigators
Principal Investigator: Orna Geyer, Professor Carmel Medical Center
PRS Account Carmel Medical Center
Verification Date September 2014