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Advanced Characterization of Autosomal Dominant Optic Atrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01522638
Recruitment Status : Unknown
Verified January 2012 by Cecilia Rönnbäck, Glostrup University Hospital, Copenhagen.
Recruitment status was:  Enrolling by invitation
First Posted : January 31, 2012
Last Update Posted : January 31, 2012
Information provided by (Responsible Party):
Cecilia Rönnbäck, 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.

Condition or disease
Optic Atrophy, Autosomal Dominant

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Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Cross Sectional Study of Autosomal Dominant Opticus Atrophy
Study Start Date : December 2011
Estimated Primary Completion Date : June 2014
Estimated Study Completion Date : June 2015

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

Primary Outcome Measures :
  1. visual acuity [ Time Frame: 1 day ]
  2. vessel caliber [ Time Frame: 1 day ]
  3. OCT [ Time Frame: 1 day ]
  4. Microperimetry [ Time Frame: 1 day ]
  5. Lifestyle questionnaire [ Time Frame: 1 day ]
  6. General checkup [ Time Frame: 1 day ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Subjects with autosomal dominant optic atrophy in Denmark.

Inclusion Criteria:

  • Subjects diagnosed with autosomal dominant optic atrophy

Exclusion Criteria:

  • Age below 8 years old

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01522638

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Copenhagen University, Glostrup Hospital
Copenhagen, Denmark, DK-2600
Sponsors and Collaborators
Glostrup University Hospital, Copenhagen
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Principal Investigator: Michael Larsen, MD, Prof. DMSc Glostrup University Hospital
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Cecilia Rönnbäck, MD, Glostrup University Hospital, Copenhagen Identifier: NCT01522638    
Other Study ID Numbers: ADOA
First Posted: January 31, 2012    Key Record Dates
Last Update Posted: January 31, 2012
Last Verified: January 2012
Additional relevant MeSH terms:
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Optic Atrophy
Optic Atrophy, Autosomal Dominant
Pathological Conditions, Anatomical
Joint Diseases
Musculoskeletal Diseases
Muscular Diseases
Musculoskeletal Abnormalities
Congenital Abnormalities
Optic Nerve Diseases
Cranial Nerve Diseases
Nervous System Diseases
Eye Diseases
Optic Atrophies, Hereditary
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Eye Diseases, Hereditary
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases