A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy

Recruiting Observational Study
OPA1 Gene Mutation Optic Atrophy, Autosomal Dominant
No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Sex
Any
Study type
Observational
Participants needed
50 (estimated)
Sponsor
Ludwig-Maximilians - University of Munich · Other
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About This Trial
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy. Participants will undergo standardized ophthalmic and functional assessments, including visual acuity testing, visual field testing, color vision and contrast sensitivity testing, optical coherence to…
Trial Locations
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Eligibility Criteria
Inclusion Criteria: * Age 6 years or older * Clinical diagnosis or clinical features consistent with optic atrophy * Molecular genetic confirmation of a pathogenic or likely pathogenic variant in the OPA1 gene * Ability of the participant, or the participant's parent or legal guardian, to understan…
Contacts

Sarah Marxsen

+49 89 4400 53770

sarah.marxsen@med.uni-muenchen.de

CONTACT

Ursula Reinstein, Dr. med. vet.

ursula.reinstein@med.uni-muenchen.de

CONTACT