Ignite Creation Date:
2024-05-05 @ 10:34 PM
Last Modification Date:
2024-10-26 @ 10:20 AM
Study NCT ID:
NCT01136460
Status:
UNKNOWN
Last Update Posted:
2014-09-18
First Post:
2010-06-02
Brief Title:
Genetic Testing in Primary Congenital Glaucoma Patients
Sponsor:
Carmel Medical Center
Organization:
Carmel Medical Center
Study Overview
Official Title:
Genetic Testing in Primary Congenital Glaucoma Patients
Status:
UNKNOWN
Status Verified Date:
2014-09
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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 15000 and 110000 births and in populations where consanguinity is prevalent such as among Slovakian Gypsies and Saudi Arabians the incidence ranges from 11250 and 12500 births respectively PCG is believed to be an autosomal-recessive transmitted disease with incomplete penetrance Three different loci have been mapped for it ie GLC3A on chromosome 2p21 GLC3B on 1p362 and GLC3C on 14q243 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
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 15000 and 110000 births and in populations where consanguinity is prevalent such as among Slovakian Gypsies and Saudi Arabians the incidence ranges from 11250 and 12500 births respectively PCG is believed to be an autosomal-recessive transmitted disease with incomplete penetrance Three different loci have been mapped for it ie GLC3A on chromosome 2p21 GLC3B on 1p362 and GLC3C on 14q243 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None