Genetic Testing in Primary Congenital Glaucoma Patients

NCT01136460 | Unknown DMC

• 1 other identifier: CMC052005CTIL
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

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.

Conditions

Congenital Glaucoma

Keywords

Primary congenital glaucoma; neonatal; Genotype correlation; Phenotype correlation

Outcome Measures

Primary Outcomes (1)

• Mutations in the CYP1B1 gene

  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.

  one year

Study Arms (1)

Primary congenital glaucoma

Primary congenital glaucoma patients and their immediate relatives

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Primary congenital glaucoma patients and their immediate relatives

You may qualify if:

• Primary congenital glaucoma pediatric patients
• Glaucoma that was diagnosed within the first 12 months of their life
• Primary congenital glaucoma pediatric patients's parents

You may not qualify if:

• any other ocular or systemic diseases

Sponsors & Collaborators

• Carmel Medical Center: lead

Study Sites (1)

Carmel Medical Center

Haifa, 34362, Israel

RECRUITING

Related Publications (1)

• 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.

  PMID: 21168818 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

blood samples

MeSH Terms

Conditions

Hydrophthalmos

Condition Hierarchy (Ancestors)

Eye Abnormalities; Eye Diseases; Glaucoma, Open-Angle; Glaucoma; Ocular Hypertension; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases

Study Officials

• Orna Geyer, Professor

  Carmel Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Alvit Wolf, MD

CONTACT

972-4-8250419; dr.alvit@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: June 2, 2010
• First Posted: June 3, 2010
• Study Start: May 1, 2006
• Primary Completion: May 1, 2020
• Study Completion: May 1, 2020
• Last Updated: September 18, 2014

Record last verified: 2014-09

Locations

IL (1)