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
  Purpose

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


Condition
Primary Congenital Glaucoma

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Study of Gene, Inheritance Pattern and Genotype - Phenotype Correlations in South Korean Patients With Primary Congenital Glaucoma

Resource links provided by NLM:


Further study details as provided by Samsung Medical Center:

Primary Outcome Measures:
  • 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 ]

Secondary Outcome Measures:
  • 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 ]

Biospecimen Retention:   Samples With DNA

peripheral blood

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


Estimated Enrollment: 100
Study Start Date: September 2008
Estimated Study Completion Date: September 2010
Estimated Primary Completion Date: March 2010 (Final data collection date for primary outcome measure)
Groups/Cohorts
Glaucoma
South korean patients with primary congenital glaucoma

Detailed Description:

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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

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

Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • Congenital glaucoma which relates with other systemic disease
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01020721

Contacts
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

Locations
Korea, Republic of
Samsung Medical Center Recruiting
Seoul, Korea, Republic of, 135-710
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   
Principal Investigator: Chang Won Kee, M.D.         
Sponsors and Collaborators
Samsung Medical Center
Investigators
Principal Investigator: Chang Won Kee, M.D. Samsung Medical Center
  More Information

Publications:
Responsible Party: Changwon Kee, Samsung Medical Center
ClinicalTrials.gov Identifier: NCT01020721     History of Changes
Other Study ID Numbers: 2008-08-070
Study First Received: November 22, 2009
Last Updated: November 23, 2009
Health Authority: South Korea: Institutional Review Board

Keywords provided by Samsung Medical Center:
CYP1B1 gene

Additional relevant MeSH terms:
Glaucoma
Hydrophthalmos
Ocular Hypertension
Eye Diseases
Eye Abnormalities
Glaucoma, Open-Angle
Congenital Abnormalities
Infant, Newborn, Diseases

ClinicalTrials.gov processed this record on September 18, 2014