Advanced Characterization of Autosomal Dominant Optic Atrophy

This study is enrolling participants by invitation only.
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 Glostrup University Hospital, Copenhagen:

Primary Outcome Measures:
  • visual acuity [ Time Frame: 1 day ] [ Designated as safety issue: No ]
  • vessel caliber [ Time Frame: 1 day ] [ Designated as safety issue: No ]
  • OCT [ Time Frame: 1 day ] [ Designated as safety issue: No ]
  • Microperimetry [ Time Frame: 1 day ] [ Designated as safety issue: No ]
  • Lifestyle questionnaire [ Time Frame: 1 day ] [ Designated as safety issue: No ]
  • General checkup [ Time Frame: 1 day ] [ Designated as safety issue: No ]

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
Genders Eligible for Study:   Both
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
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, see Learn About Clinical Studies.

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
Health Authority: Denmark: Ethics Committee

Additional relevant MeSH terms:
Optic Atrophy
Optic Atrophy, Autosomal Dominant
Cranial Nerve Diseases
Eye Diseases
Eye Diseases, Hereditary
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Metabolic Diseases
Mitochondrial Diseases
Nervous System Diseases
Neurodegenerative Diseases
Optic Atrophies, Hereditary
Optic Nerve Diseases
Pathological Conditions, Anatomical processed this record on May 22, 2016