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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT03009188
Other study ID # AierEYC
Secondary ID
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


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