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

ConditionsOPA1 Gene Mutation Optic Atrophy, Autosomal Dominant

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorLudwig-Maximilians - University of Munich

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 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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

None

Trial population

Participants will be recruited from the inherited retinal disease and ophthalmogenetics clinic of the Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität München, Germany. The study population consists of patients followed at this tertiary referral center. Additional participants may be referred by genetic diagnostic centers or other physicians in Germany or abroad after molecular genetic testing and clinical suspicion of OPA1-related disease. Self-referral by patients with a previous diagnosis of OPA1-associated autosomal dominant optic atrophy is also accepted.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

Primary outcomes

1

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

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.

Time frame

Baseline and follow-up visits up to 3 years

2

Change in contrast sensitivity

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

Time frame

Baseline and follow-up visits up to 3 years

3

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

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.

Time frame

Baseline and follow-up visits up to 3 years

4

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

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

Time frame

Baseline and follow-up visits up to 3 years

Secondary outcomes

1

Change in retinal flavoprotein fluorescence intensity measured by flavoprotein fluorescence imaging

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.

Time frame

Baseline and follow-up visits up to 3 years

2

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

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

Time frame

Baseline and follow-up visits up to 3 years

3

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

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.

Time frame

Baseline and follow-up visits up to 3 years

4

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

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.

Time frame

Baseline and follow-up visits up to 3 years

Other outcomes

1

Change in pupil diameter measured by video-oculography using BulbiCAM

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

Time frame

Baseline and follow-up visits up to 3 years

2

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

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.

Time frame

Baseline and follow-up visits up to 3 years

3

Change in cumulative fixation time measured by BulbiCAM Fixation test

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

Time frame

Baseline and follow-up visits up to 3 years

4

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

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

Time frame

Baseline and follow-up visits up to 3 years

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Ludwig-Maximilians - University of Munich

Lead sponsor

LMU Klinikum

Sponsor institution

Source ClinicalTrials.gov