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Trial record 1 of 5 for:    "Optic Atrophy, Autosomal Dominant" OR "optic atrophy type 1"
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Advanced Characterization of Autosomal Dominant Optic Atrophy

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified January 2012 by Cecilia Rönnbäck, Glostrup University Hospital, Copenhagen.
Recruitment status was:  Enrolling by invitation
Information provided by (Responsible Party):
Cecilia Rönnbäck, Glostrup University Hospital, Copenhagen Identifier:
First received: November 30, 2011
Last updated: January 27, 2012
Last verified: January 2012
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.

Optic Atrophy, Autosomal Dominant

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Cross Sectional Study of Autosomal Dominant Opticus Atrophy

Resource links provided by NLM:

Further study details as provided by Cecilia Rönnbäck, Glostrup University Hospital, Copenhagen:

Primary Outcome Measures:
  • visual acuity [ Time Frame: 1 day ]
  • vessel caliber [ Time Frame: 1 day ]
  • OCT [ Time Frame: 1 day ]
  • Microperimetry [ Time Frame: 1 day ]
  • Lifestyle questionnaire [ Time Frame: 1 day ]
  • General checkup [ Time Frame: 1 day ]

Estimated Enrollment: 50
Study Start Date: December 2011
Estimated Study Completion Date: June 2015
Estimated Primary Completion Date: June 2014 (Final data collection date for primary outcome measure)
This group includes subjects diagnosed with autosomal dominant optic atrophy
Healthy subjects


Ages Eligible for Study:   8 Years and older   (Child, Adult, Senior)
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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01522638

Copenhagen University, Glostrup Hospital
Copenhagen, Denmark, DK-2600
Sponsors and Collaborators
Glostrup University Hospital, Copenhagen
Principal Investigator: Michael Larsen, MD, Prof. DMSc Glostrup University Hospital
  More Information

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Cecilia Rönnbäck, MD, Glostrup University Hospital, Copenhagen Identifier: NCT01522638     History of Changes
Other Study ID Numbers: ADOA
Study First Received: November 30, 2011
Last Updated: January 27, 2012

Additional relevant MeSH terms:
Optic Atrophy, Autosomal Dominant
Optic Atrophy
Pathological Conditions, Anatomical
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 processed this record on September 21, 2017