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Advanced Characterization of Autosomal Dominant Optic Atrophy

NCT ID: NCT01522638

Last Updated: 2012-01-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-12-31

Study Completion Date

2015-06-30

Brief Summary

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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

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Conditions

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Optic Atrophy, Autosomal Dominant

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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ADOA

This group includes subjects diagnosed with autosomal dominant optic atrophy

No interventions assigned to this group

Healthy subjects

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Subjects diagnosed with autosomal dominant optic atrophy

Exclusion Criteria

* Age below 8 years old
Minimum Eligible Age

8 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Glostrup University Hospital, Copenhagen

OTHER

Sponsor Role lead

Responsible Party

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Cecilia Rönnbäck

MD

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Michael Larsen, MD, Prof. DMSc

Role: PRINCIPAL_INVESTIGATOR

Glostrup University Hospital

Locations

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Copenhagen University, Glostrup Hospital

Copenhagen, , Denmark

Site Status

Countries

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Denmark

References

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Ronnback C, Larsen M. Macular sensitivity and fixation patterns in patients with autosomal dominant optic atrophy. Dan Med J. 2014 Sep;61(9):A4888.

Reference Type DERIVED
PMID: 25186535 (View on PubMed)

Other Identifiers

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ADOA

Identifier Type: -

Identifier Source: org_study_id