OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Ludwig-Maximilians - University of Munich
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in 2.5% low-contrast visual acuity measured with Sloan letter charts | 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. |
| Change in contrast sensitivity | 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. |
| Change in macular ganglion cell layer thickness measured by optical coherence tomography | 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. |
| Change in peripapillary retinal nerve fiber layer thickness measured by optical coherence tomography | 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
| Measure | Time frame | Description |
|---|---|---|
| Change in retinal flavoprotein fluorescence intensity measured by flavoprotein fluorescence imaging | 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. |
| Change in central visual field sensitivity measured by Humphrey 10-2 automated perimetry | 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. |
| Change in protan and tritan colour contrast thresholds measured by the Arden Colour Contrast Test | 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. |
| Change in best-corrected visual acuity (BCVA) measured with high-contrast visual acuity testing | 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. |
Countries
Germany
Contacts
CONTACTSarah Marxsen
CONTACTUrsula Reinstein, Dr. med. vet.
PRINCIPAL_INVESTIGATORMaximilian-Joachim Gerhardt, Dr. med.
Department of Ophthalmology, LMU University Hospital, Ludwig-Maximilians-Universität München
Outcome results
None listed