NCT01522638

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
50

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Dec 2011

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

November 30, 2011

Completed
1 day until next milestone

Study Start

First participant enrolled

December 1, 2011

Completed
2 months until next milestone

First Posted

Study publicly available on registry

January 31, 2012

Completed
2.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2014

Completed
1 year until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2015

Completed
Last Updated

January 31, 2012

Status Verified

January 1, 2012

Enrollment Period

2.5 years

First QC Date

November 30, 2011

Last Update Submit

January 27, 2012

Conditions

Optic Atrophy, Autosomal Dominant

Outcome Measures

Primary Outcomes (6)

  • visual acuity

    1 day

  • vessel caliber

    1 day

  • OCT

    1 day

  • Microperimetry

    1 day

  • Lifestyle questionnaire

    1 day

  • General checkup

    1 day

Study Arms (2)

ADOA

This group includes subjects diagnosed with autosomal dominant optic atrophy

Healthy subjects

Eligibility Criteria

Age8 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Subjects with autosomal dominant optic atrophy in Denmark.

You may qualify if:

  • Subjects diagnosed with autosomal dominant optic atrophy

You may not qualify if:

  • Age below 8 years old

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Copenhagen University, Glostrup Hospital

Copenhagen, DK-2600, Denmark

Location

Related Publications (1)

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

    PMID: 25186535DERIVED

MeSH Terms

Conditions

Optic Atrophy, Autosomal Dominant

Condition Hierarchy (Ancestors)

Optic Atrophies, HereditaryOptic AtrophyOptic Nerve DiseasesCranial Nerve DiseasesNervous System DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesEye Diseases, HereditaryEye DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMitochondrial DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Michael Larsen, MD, Prof. DMSc

    Glostrup University Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
MD

Study Record Dates

First Submitted

November 30, 2011

First Posted

January 31, 2012

Study Start

December 1, 2011

Primary Completion

June 1, 2014

Study Completion

June 1, 2015

Last Updated

January 31, 2012

Record last verified: 2012-01

Locations

DK(1)