Ignite Creation Date:
2024-05-06 @ 9:31 AM
Last Modification Date:
2024-10-26 @ 12:16 PM
Study NCT ID:
NCT03009188
Status:
COMPLETED
Last Update Posted:
2017-01-04
First Post:
2016-12-31
Brief Title:
Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom
Sponsor:
Aier Eye Hospital Changsha
Organization:
Aier Eye Hospital Changsha
Study Overview
Official Title:
Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom
Status:
COMPLETED
Status Verified Date:
2016-12
Last Known Status:
None
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:
Axenfeld-Rieger syndrome ARS is a rare autosomal dominant disorder characterized by anterior segment abnormalities and systemic abnormalities To datetwo major genes forkhead box C1 FOXC1 on chromosome 6p25 and pituitary homeobox 2 PITX2 on chromosome 4q25 have been demonstrated to cause ARS In this study we performed complete ophthalmologic examinations and analysis of FOXC1 and PITX2 of a Chinese family with ARS
Detailed Description:
Two genetions of a Chinese family with ARS were recruited to Aier Eye Hospital of Changsha
Clinical evaluations We performed full ophthalmologic examinations of all subjects including visual acuity intraocular pressure measurements Goldman slit lamp anterior segment photography visual field test Humphrey 750 Carl Zeiss Germany Anterior segment OCT Carl Zeiss Germany If the refractive medium is clear we also performed funduscopy gonioscopic and retinal nerve fiber layer RNFL thickness measurements Carl Zeiss Germany
Mutation analysis About 2 ml of venous blood sampled from each subject and collected in Vacutainer tubes Sanjiu Medical Technology Co Ltd Liuyang China containing EDTA Genomic DNA was extracted from each blood using a genomic DNA mini kit for blood Life Technologies All coding exons with flanking intronic regions of FOXC1 and PITX2 were amplified using PCR with primers The amplifed DNA was purifed by agarose gel electrophoresis and sequenced on a 37303700xl automated DNA sequencer Applied Biosystems
Clinical evaluations We performed full ophthalmologic examinations of all subjects including visual acuity intraocular pressure measurements Goldman slit lamp anterior segment photography visual field test Humphrey 750 Carl Zeiss Germany Anterior segment OCT Carl Zeiss Germany If the refractive medium is clear we also performed funduscopy gonioscopic and retinal nerve fiber layer RNFL thickness measurements Carl Zeiss Germany
Mutation analysis About 2 ml of venous blood sampled from each subject and collected in Vacutainer tubes Sanjiu Medical Technology Co Ltd Liuyang China containing EDTA Genomic DNA was extracted from each blood using a genomic DNA mini kit for blood Life Technologies All coding exons with flanking intronic regions of FOXC1 and PITX2 were amplified using PCR with primers The amplifed DNA was purifed by agarose gel electrophoresis and sequenced on a 37303700xl automated DNA sequencer Applied Biosystems
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