Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom

Genetic Findings in a Chinese Family With ARS Clinical Trial

Official title:

Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03009188
• Other study ID #: AierEYC
• Status: Completed
• Phase: N/A
• First received: December 31, 2016
• Last updated: December 31, 2016
• Start date: July 2016
• Est. completion date: December 2016

Study information

• Verified date: December 2016
• Source: Aier Eye Hospital, Changsha
• Contact: n/a
• Is FDA regulated: No
• Health authority: China: Ethics Committee
• Study type: Observational

Clinical Trial Summary

Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, characterized by anterior segment abnormalities and systemic abnormalities. To date,two 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.

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 3730/3700xl automated DNA sequencer (Applied Biosystems).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 9
• Est. completion date: December 2016
• Est. primary completion date: December 2016
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• a Chinese family with ARS

Exclusion Criteria:

Study Design

Observational Model: Family-Based

Related Conditions & MeSH terms

• Genetic Findings in a Chinese Family With ARS
• Signs and Symptoms

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Aier Eye Hospital, Changsha

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Novel genetic findings in a Chinese family with Axenfeld-Rieger syndrom		Dec 1, 2016	No