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NCT Number: NCT07729982

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

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 tomography, retinal flavoprotein fluorescence imaging, and video-oculography-based ocular motor and pupillary measurements. The study aims to characterize disease severity and progression over time and to identify structural, metabolic, and functional biomarkers that may serve as clinical endpoints for future therapeutic studies.

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Key information

Conditions

OPA1 Gene Mutation Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cranial Nerve Diseases Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Metabolic Diseases Mitochondrial Diseases Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases Optic Atrophies, Hereditary Optic Atrophy Optic Atrophy, Autosomal Dominant Optic Nerve Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Department of Ophthalmology, LMU University Hospital, LMU Medizin, Ludwig-Maximilians-Universität München

Munich, Bavaria, 80336, Germany

Location status: Recruiting

Location contact

Claudia Priglinger, Prof. Dr. med.

SUB_INVESTIGATOR

Günther Rudolph, Prof. Dr. med.

SUB_INVESTIGATOR

Sarah Marxsen

CONTACT

[email protected]

+49-89-4400-53770

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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 understand the nature of the study and provide written informed consent

(Participants are eligible for inclusion if all of the criteria mentioned above are met)

Exclusion criteria

  • Severe systemic disease or medical condition that, in the opinion of the investigator, would preclude participation in the study-related examinations

Treatment and study plan

Primary outcomes

  1. Change in 2.5% low-contrast visual acuity measured with Sloan letter charts

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in low-contrast visual acuity measured using 2.5% low-contrast Sloan letter charts. Low-contrast visual acuity will be recorded as the number of Sloan letters correctly read and may be converted to logMAR for analysis. The unit of measure is number of Sloan letters correctly read.

  2. Change in contrast sensitivity

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in contrast sensitivity measured using the Manifold® Platform from Adaptive Sensory Technology. The unit of measure is log contrast sensitivity.

  3. Change in macular ganglion cell layer thickness measured by optical coherence tomography

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in macular ganglion cell layer thickness, or ganglion cell-inner plexiform layer thickness where applicable, measured by optical coherence tomography. The unit of measure is micrometers.

  4. Change in peripapillary retinal nerve fiber layer thickness measured by optical coherence tomography

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in peripapillary retinal nerve fiber layer thickness measured by optical coherence tomography. The unit of measure is micrometers.

Secondary outcomes

  1. Change in retinal flavoprotein fluorescence intensity measured by flavoprotein fluorescence imaging

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in retinal autofluorescence intensity measured using the OcuMet Beacon confocal scanning ophthalmoscope. The unit of measure is a device-specific autofluorescence intensity score.

  2. Change in central visual field sensitivity measured by Humphrey 10-2 automated perimetry

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in central visual field sensitivity measured using Humphrey 10-2 automated perimetry. The unit of measure is decibels.

  3. Change in protan and tritan colour contrast thresholds measured by the Arden Colour Contrast Test

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in protan and tritan colour contrast thresholds measured using the Arden Colour Contrast Test. Protan and tritan thresholds will be reported separately. The unit of measure is percent contrast.

  4. Change in best-corrected visual acuity (BCVA) measured with high-contrast visual acuity testing

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in best-corrected visual acuity (BCVA) measured using standardized high-contrast visual acuity testing. BCVA will be recorded as the number of letters correctly read or converted to logMAR for analysis. The unit of measure is logMAR or number of letters correctly read.

Other outcomes

  1. Change in pupil diameter measured by video-oculography using BulbiCAM

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in pupil diameter measured by video-oculography using the BulbiCAM Pupil Dynamics test. The unit of measure is millimeters.

  2. Change in pupillary peak velocity measured by video-oculography using BulbiCAM

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in pupillary peak constriction and dilation velocity measured by video-oculography using the BulbiCAM Pupil Dynamics test. Constriction and dilation velocity will be reported separately. The unit of measure is millimeters per second.

  3. Change in cumulative fixation time measured by BulbiCAM Fixation test

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in the cumulative fixation time measured using the BulbiCAM. The unit of measure is seconds.

  4. Change in smooth pursuit gain measured by video-oculography using BulbiCAM

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in device-derived smooth pursuit gain measured during the BulbiCAM Smooth Pursuit test. The unit of measure is percent.

  5. Change in objective central visual field sensitivity measured by KONAN ObjectiveFIELD Analyzer

    Time frame: Baseline and follow-up visits up to 3 years

    Change from baseline in objective central visual field sensitivity measured using the KONAN ObjectiveFIELD Analyzer with multifocal pupillographic objective perimetry. The unit of measure is decibels.

Study contacts

Contact information is provided by the study sponsor or research team.

Sarah Marxsen

CONTACT

[email protected]

+49 89 4400 53770

Ursula Reinstein, Dr. med. vet.

CONTACT

[email protected]

Sponsors and collaborators

Lead sponsor

Ludwig-Maximilians - University of Munich

Other

Registry information

Official study title

Clinical Characterisation of OPA1-Associated Autosomal-Dominant Optic Atrophy

Acronym: OPA-LONG

Important dates

Study start
2026
Primary completion
2030
Study completion
2030
First posted
Jul 28, 2026
Registry last updated
Jul 28, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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