Genetic Testing in Primary Congenital Glaucoma Patients | NCT01136460

Studies
Genetic Testing in Primary Congenital Glaucoma Patients

NCT01136460

Sponsor

Carmel Medical Center

Status

Unknown status

Last Update Posted

Sep 18, 2014Estimated

Enrollment

400Estimated

Phase

Not provided

Conditions

Congenital Glaucoma

Interventions

Not provided

Countries

Israel

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2014

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

May 2006

Primary Completion Date

May 2020Estimated

Completion Date

May 2020Estimated

First Submitted Date

Jun 2, 2010

First Submission Date that Met QC Criteria

Jun 2, 2010

First Posted Date

Jun 3, 2010Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 17, 2014

Last Update Posted Date

Sep 18, 2014Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

400Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Primary congenital glaucoma		Primary congenital glaucoma patients and their immediate relatives

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Primary congenital glaucoma patients and their immediate relatives

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Alvit Wolf, MD	Contact	972-4-8250419		dr.alvit@gmail.com

Overall Officials

Name	Affiliation	Role
Orna Geyer, Professor	Carmel Medical Center	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Carmel Medical Center	Recruiting	Haifa		34362	Israel

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
21168818	Derived	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.

ID	Term
D005124	Eye Abnormalities
D005128	Eye Diseases
D005902	Glaucoma, Open-Angle
D005901	Glaucoma