What is this study trying to find out about OPA1-associated autosomal dominant optic atrophy?

This study aims to understand how vision changes over time in people with OPA1-associated autosomal dominant optic atrophy. Researchers are observing clinical and genetic features to identify markers that could be used in future treatments. It is sponsored by Ludwig-Maximilians University of Munich.

Who may be eligible for this OPA1-associated optic atrophy clinical trial?

People aged 6 years or older with a clinical diagnosis or features of optic atrophy and confirmed OPA1 gene mutation may be eligible. Participants must be able to provide informed consent or have a guardian who can consent. Please review eligibility criteria for more details.

Is there any cost to participate in this OPA1-associated optic atrophy clinical trial?

Study-related care, including all study visits and eye assessments, is provided at no cost. However, personal travel expenses and related costs may vary and are not guaranteed to be covered.

Actively Recruiting

All Genders

ID07729982

Observational Study Tracking Vision Changes Over Time in People with OPA1-Associated Autosomal Dominant Optic Atrophy

Led by Ludwig-Maximilians - University of Munich · Updated on 2026-07-28

Participants Needed

Research Sites

4 weeks

Total Duration

AI-Summary

What this Trial Is About

Researchers are conducting a prospective, single-center observational study to understand the natural history, clinical features, and genetic spectrum of OPA1-associated autosomal dominant optic atrophy. This study focuses on tracking vision changes over time to better characterize disease severity and progression in affected individuals. Participants will undergo a range of standardized eye and functional tests, including visual acuity, visual field, color vision and contrast sensitivity testing, optical coherence tomography, retinal flavoprotein fluorescence imaging, and video-oculography-based eye movement and pupil assessments. These evaluations will be performed regularly at baseline and follow-up visits over up to 3 years to identify structural, metabolic, and functional biomarkers that could be useful endpoints in future treatment studies. During the study, participants will have multiple assessments of vision and retinal structure, including measurements of low-contrast visual acuity, contrast sensitivity, and retinal nerve fiber layer thickness. Researchers will monitor these changes over time to understand disease progression. Safety monitoring is inherent as this is an observational study with no investigational treatments, and participants will be followed for up to 3 years from enrollment.

CONDITIONS

Brief Title

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

Who Can Participate

All Genders

Eligibility Criteria

You may qualify if you...

Age 6 years or older
Clinical diagnosis or features consistent with optic atrophy
Molecular genetic confirmation of a pathogenic or likely pathogenic variant in the OPA1 gene
Ability to understand the study and provide written informed consent, or have a parent/legal guardian who can do so

You will not qualify if you...

Severe systemic disease or medical condition that would prevent participation in study-related examinations

Research Team

Sarah Marxsen

Ursula Reinstein, Dr. med. vet.

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