OPA1 Gene MutationOPA-LONGNCT07729982
A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
An observational study of OPA1 Gene Mutation and Optic Atrophy, Autosomal Dominant, run by Ludwig-Maximilians - University of Munich at 1 site in Germany.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
- How many people
- 50 participants
- Where
- 1 siteGermany
- Study dates
- 16 Jul 2026to Nov 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study 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.
Who may be able to join
- 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)
Who cannot join
- Severe systemic disease or medical condition that, in the opinion of the investigator, would preclude participation in the study-related examinations
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Ursula Reinstein, Dr. med. vet. contact
Germany1 site, 1 recruiting
- Recruiting
Department of Ophthalmology, LMU University Hospital, LMU Medizin, Ludwig-Maximilians-Universität München
Munich, Bavaria, 80336
Sarah Marxsen, +49-89-4400-53770, sarah.marxsen@med.uni-muenchen.de
Claudia Priglinger, Prof. Dr. med.
About this study
Official title: Clinical Characterisation 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.
- Medical subject headings
- Optic Atrophy, Autosomal Dominant
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline and follow-up visits up to 3 years
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.
Measured: Baseline and follow-up visits up to 3 years
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.
Measured: Baseline and follow-up visits up to 3 years
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.
Measured: Baseline and follow-up visits up to 3 years
Secondary outcomes (4)
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.
Measured: Baseline and follow-up visits up to 3 years
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.
Measured: Baseline and follow-up visits up to 3 years
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.
Measured: Baseline and follow-up visits up to 3 years
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.
Measured: Baseline and follow-up visits up to 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jul 2026
- Study start16 Jul 2026
- Primary completionOct 2030 (estimated)
- Study completionNov 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for OPA1 Gene MutationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ludwig-Maximilians - University of Munich
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Maximilian-Joachim Gerhardt, LMU Klinikum
- Investigators
- Maximilian-Joachim Gerhardt, Dr. med., Principal investigator, Department of Ophthalmology, LMU University Hospital, Ludwig-Maximilians-Universität München
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07729982
- Sponsor's protocol ID
- 25-0268
- Acronym
- OPA-LONG
- Status last verified
- Jul 2026
- First submitted
- 21 Jun 2026
- Last updated
- 28 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Characterisation of OPA1-Associated Autosomal-Dominant Optic Atrophy
- ClinicalTrials.gov ID
- NCT07729982
- Acronym / sponsor ID
- OPA-LONG / 25-0268
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Ludwig-Maximilians - University of MunichUniversity, hospital or other
- Study start
- 16 Jul 2026 (actual)
- Primary completion
- Oct 2030 (estimated)
- Study completion
- Nov 2030 (estimated)
- First posted
- 28 Jul 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study 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.
Key inclusion criteria (5 listed)
- 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)
Key exclusion criteria (1 listed)
- Severe systemic disease or medical condition that, in the opinion of the investigator, would preclude participation in the study-related examinations
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
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.
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.
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.
4 secondary outcomes
Change in retinal flavoprotein fluorescence intensity measured by flavoprotein fluorescence imaging
Time frame: Baseline and follow-up visits up to 3 years
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 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 in best-corrected visual acuity (BCVA) measured with high-contrast visual acuity testing
Time frame: Baseline and follow-up visits up to 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jul 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Ursula Reinstein, Dr. med. vet. contact
Maximilian-Joachim Gerhardt, Dr. med. principal investigator
Department of Ophthalmology, LMU University Hospital, Ludwig-Maximilians-Universität München
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of OPA1 Gene Mutation and Optic Atrophy, Autosomal Dominant, run by Ludwig-Maximilians - University of Munich at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 28 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sarah Marxsen (+49 89 4400 53770, sarah.marxsen@med.uni-muenchen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in 2.5% low-contrast visual acuity measured with Sloan letter charts (time frame: Baseline and follow-up visits up to 3 years). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Jul 2026.