Cross Sectional Study of Autosomal Dominant Opticus Atrophy
Trial Snapshot
- Phase
- Not Applicable
- Sponsor
- Enrollment
- 50
- Locations
- 1
- Primary Endpoint
- Lifestyle questionnaire
Study Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Family Based
- Time Perspective
- Cross Sectional
Eligibility Criteria
- Ages
- 8 Years to — (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- •Subjects diagnosed with autosomal dominant optic atrophy
Exclusion Criteria
- •Age below 8 years old
Outcomes
Primary Outcomes
Lifestyle questionnaire
Time Frame: 1 day
vessel caliber
Time Frame: 1 day
OCT
Time Frame: 1 day
General checkup
Time Frame: 1 day
visual acuity
Time Frame: 1 day
Microperimetry
Time Frame: 1 day
Secondary Outcomes
No secondary outcomes reported
Investigators
Cecilia Rönnbäck
MD
Glostrup University Hospital, Copenhagen
