Advanced Characterization of Autosomal Dominant Optic Atrophy

• Conditions: Optic Atrophy, Autosomal Dominant

• Registration Number: NCT01522638
• Lead Sponsor: Glostrup University Hospital, Copenhagen

Brief Summary

The purpose of this study is to determine the anatomy of the retina and the optic nerve in patients with autosomal dominant optic atrophy (ADOA). Based on these findings the aim of the study is to determine why patients with the same type of genetic material, i.e. the same mutation, have such large variations of symptoms, spanning from unaffected subjects to blindness. The project requires examination of both healthy and affected family members.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2011-11-30
• Study Start: 2011-12
• Status Verified: 2012-01
• Study First Submitted QC: 2012-01-27
• Last Update Submitted: 2012-01-27
• Study First Posted: 2012-01-31
• Last Update Posted: 2012-01-31
• Primary Completion: 2014-06
• Study Completion: 2015-06

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

• Subjects diagnosed with autosomal dominant optic atrophy

Exclusion Criteria

• Age below 8 years old

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Lifestyle questionnaire	1 day
vessel caliber	1 day
OCT	1 day
General checkup	1 day
visual acuity	1 day
Microperimetry	1 day

Trial Locations

Locations (1)

Copenhagen University, Glostrup Hospital; 🇩🇰 Copenhagen, Denmark