The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma

The recruitment status of this study is unknown because the information has not been verified recently.
Verified August 2008 by Samsung Medical Center.
Recruitment status was  Recruiting
Sponsor:
Information provided by:
Samsung Medical Center
ClinicalTrials.gov Identifier:
NCT01020721
First received: November 22, 2009
Last updated: November 23, 2009
Last verified: August 2008

November 22, 2009
November 23, 2009
September 2008
March 2010   (final data collection date for primary outcome measure)
clinical parameters of primary congenital glaucoma (age, onset time, symptom, intraocular pressure, corneal diameter, cup to disc ratio, axial length, treatment type) [ Time Frame: March 2010 ] [ Designated as safety issue: Yes ]
Same as current
Complete list of historical versions of study NCT01020721 on ClinicalTrials.gov Archive Site
clinical parameters of primary congenital glaucoma (age, onset time, symptom, intraocular pressure, corneal diameter, cup to disc ratio, refraction, axial length, treatment type) [ Time Frame: september, 2010 ] [ Designated as safety issue: Yes ]
Same as current
Not Provided
Not Provided
 
The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma
Study of Gene, Inheritance Pattern and Genotype - Phenotype Correlations in South Korean Patients With Primary Congenital Glaucoma

Primary congenital glaucoma, which presents at birth or in infancy, if left untreated, may threaten vision. The incidence of congenital glaucoma varies among different geographic locations and ethnic groups.

Three genetic loci for primary congenital glaucoma (GLC3A in 2p21, GLC3B in 1p36, GLC3C in 14q24.3) were identified. CYP1B1 (cytochrome P450 1B1 ) gene, in the GLC3A locus is the main known gene and different CYP1B1 mutations has been described.

The genetic characteristics in south Korean patients with primary congenital glaucoma have not been reported yet and the genotype-phenotype correlations, the prognosis and the genetic counseling have not also been established. This study represents the first repot about the rate of CYP1B1 mutations, the genotype-phenotype correlations in south Korean patients with primary congenital glaucoma.

Patients with primary congenital glaucoma and their family will be analyzed for CYP1B1 mutations by direct sequencing of polymerase chain reaction fragments. Primary congenital glaucoma will be diagnosed according to the clinical parameters by glaucoma specialists. Patients were classified to several groups according to the pattern of mutations. Clinical parameters and genotype correlation will be compared between groups

The incidence of congenital glaucoma varies among different geographic locations and ethnic group. The incidence of primary congenital glaucoma is supposed to be 0.01-0.03% in Western countries but it is reported higher in the Middle East. The inheritance pattern for congenital glaucoma is most commonly autosomal recessive. But the fact that sex distribution is unequal and the reduced penetration is seen in patients with family history implies that it's inheritance pattern is unclear. Approximately 10-40% patients have family background and the rate of penetration is known to about 10-40%.

Linkage studies have been genetic heterogeneity and have mapped three loci for primary congenital glaucoma (GLC3A in 2p21, GLC3B in 1p36, GLC3C in 14q24.3). Molecular screening of the gene or primary congenital glaucoma families liked to the 2p21 locus has determined that mutations in the cytochrome P450 1B1 (CYP1B1)are responsible for phenotype.

The genetic characteristics in south Korean patients with primary congenital glaucoma have not been not reported yet and the genotype-phenotype correlations, prognosis, genetic counseling have not established. So In this study, we evaluate the rate of CYP1B1 mutations in south Korean patients with primary congenital glaucoma and establish genotype-phenotype correlations.

Patients with primary congenital glaucoma and their family will be analyzed for CYP1B1 mutations by direct sequencing of polymerase chain reaction fragments. 100 ethnically matched normal individuals served as control subjects. Primary congenital glaucoma will be determined by examinations with slit lamp biomicroscopy, gonioscopy, measurement of intraocular pressure, corneal diameter and axial length, optic disc evaluation by glaucoma specialists. Patients were classified to several groups according to the pattern of mutations. Clinical parameters and genotype correlation will be compared between groups.

Observational
Observational Model: Family-Based
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:

peripheral blood

- Genomic DNA was extracted from the peripheral leukocyte of all subjects through peripheral blood sampling

Non-Probability Sample

Patients with primary congenital glaucoma who visit the glaucoma clinic in south Korea

Primary Congenital Glaucoma
Not Provided
Glaucoma
South korean patients with primary congenital glaucoma

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
100
September 2010
March 2010   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Clinical diagnosis of primary congenital glaucoma
  • Candidate for peripheral blood sampling

Exclusion Criteria:

  • Congenital glaucoma which relates with other systemic disease
Both
Not Provided
Yes
Contact: Chang Won Kee, M.D., Ph.D. 82-2-3410-3564 ckee@skku.edu
Contact: Sung Chul Park, M.D. 82-2-3410-2320 being111@hotmail.com
Korea, Republic of
 
NCT01020721
2008-08-070
Yes
Changwon Kee, Samsung Medical Center
Samsung Medical Center
Not Provided
Principal Investigator: Chang Won Kee, M.D. Samsung Medical Center
Samsung Medical Center
August 2008

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP