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Advanced Characterization of Autosomal Dominant Optic Atrophy

Sponsor
Glostrup University Hospital, Copenhagen (Other)
Overall Status
Unknown status
CT.gov ID
NCT01522638
Collaborator
(none)
50
Enrollment
1
Location
42
Duration (Months)
1.2
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    50 participants
    Observational Model:
    Family-Based
    Time Perspective:
    Cross-Sectional
    Official Title:
    Cross Sectional Study of Autosomal Dominant Opticus Atrophy
    Study Start Date :
    Dec 1, 2011
    Anticipated Primary Completion Date :
    Jun 1, 2014
    Anticipated Study Completion Date :
    Jun 1, 2015

    Arms and Interventions

    Arm Intervention/Treatment
    ADOA

    This group includes subjects diagnosed with autosomal dominant optic atrophy
    Healthy subjects

    Outcome Measures

    Primary Outcome Measures

    1. visual acuity [1 day]

    2. vessel caliber [1 day]

    3. OCT [1 day]

    4. Microperimetry [1 day]

    5. Lifestyle questionnaire [1 day]

    6. General checkup [1 day]

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    8 Years and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    Inclusion Criteria:
    • Subjects diagnosed with autosomal dominant optic atrophy
    Exclusion Criteria:
    • Age below 8 years old

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Copenhagen University, Glostrup Hospital Copenhagen Denmark DK-2600

    Sponsors and Collaborators

    • Glostrup University Hospital, Copenhagen

    Investigators

    • Principal Investigator: Michael Larsen, MD, Prof. DMSc, Glostrup University Hospital

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Cecilia Rönnbäck, MD, Glostrup University Hospital, Copenhagen
    ClinicalTrials.gov Identifier:
    NCT01522638
    Other Study ID Numbers:
    • ADOA
    First Posted:
    Jan 31, 2012
    Last Update Posted:
    Jan 31, 2012
    Last Verified:
    Jan 1, 2012
    Additional relevant MeSH terms:
    Arthrogryposis
    Optic Atrophy
    Optic Atrophy, Autosomal Dominant
    Atrophy

    Study Results

    No Results Posted as of Jan 31, 2012