The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma
Recruitment status was Recruiting
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| First Received Date ICMJE | November 22, 2009 | ||||||||
| Last Updated Date | November 23, 2009 | ||||||||
| Start Date ICMJE | September 2008 | ||||||||
| Estimated Primary Completion Date | March 2010 (final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures ICMJE |
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 ] | ||||||||
| Original Primary Outcome Measures ICMJE | Same as current | ||||||||
| Change History | Complete list of historical versions of study NCT01020721 on ClinicalTrials.gov Archive Site | ||||||||
| Current Secondary Outcome Measures ICMJE |
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 ] | ||||||||
| Original Secondary Outcome Measures ICMJE | Same as current | ||||||||
| Current Other Outcome Measures ICMJE | Not Provided | ||||||||
| Original Other Outcome Measures ICMJE | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title ICMJE | The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma | ||||||||
| Official Title ICMJE | Study of Gene, Inheritance Pattern and Genotype - Phenotype Correlations in South Korean Patients With Primary Congenital Glaucoma | ||||||||
| Brief Summary | 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 |
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| 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. |
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| Study Type ICMJE | Observational | ||||||||
| Study Design ICMJE | Observational Model: Family-Based Time Perspective: Prospective |
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| Target Follow-Up Duration | Not Provided | ||||||||
| Biospecimen | Retention: Samples With DNA Description: peripheral blood - Genomic DNA was extracted from the peripheral leukocyte of all subjects through peripheral blood sampling |
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| Sampling Method | Non-Probability Sample | ||||||||
| Study Population | Patients with primary congenital glaucoma who visit the glaucoma clinic in south Korea |
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| Condition ICMJE | Primary Congenital Glaucoma | ||||||||
| Intervention ICMJE | Not Provided | ||||||||
| Study Group/Cohort (s) | Glaucoma
South korean patients with primary congenital glaucoma |
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| Publications * |
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status ICMJE | Recruiting | ||||||||
| Estimated Enrollment ICMJE | 100 | ||||||||
| Estimated Completion Date | September 2010 | ||||||||
| Estimated Primary Completion Date | March 2010 (final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria ICMJE | Inclusion Criteria:
Exclusion Criteria:
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| Gender | Both | ||||||||
| Ages | Not Provided | ||||||||
| Accepts Healthy Volunteers | Yes | ||||||||
| Contacts ICMJE |
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| Location Countries ICMJE | Korea, Republic of | ||||||||
| Administrative Information | |||||||||
| NCT Number ICMJE | NCT01020721 | ||||||||
| Other Study ID Numbers ICMJE | 2008-08-070 | ||||||||
| Has Data Monitoring Committee | Yes | ||||||||
| Responsible Party | Changwon Kee, Samsung Medical Center | ||||||||
| Study Sponsor ICMJE | Samsung Medical Center | ||||||||
| Collaborators ICMJE | Not Provided | ||||||||
| Investigators ICMJE |
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| Information Provided By | Samsung Medical Center | ||||||||
| Verification Date | August 2008 | ||||||||
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ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |
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