Long-term picture of OPA1-related optic atrophy in kids and adults

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a prospective, single-center, non-interventional study designed to document the natural history of OPA1-associated autosomal-dominant optic atrophy. Researchers will perform standardized eye exams and functional tests, including visual acuity, visual fields, color vision, contrast sensitivity, OCT, retinal flavoprotein fluorescence imaging, and video-oculography–based eye movement and pupil measurements. The goal is to describe disease severity and progression and identify structural, metabolic, and functional biomarkers that could serve as endpoints for future therapies. Findings may help define clinical endpoints for future interventional trials and guide patient care.

Why it matters

Who can join: the full rules

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

Where it's running

• Department of Ophthalmology, LMU University Hospital, LMU Medizin, Ludwig-Maximilians-Universität München
  Munich, Bavaria, Germany Recruiting

Study contacts

• Principal investigator: Maximilian-Joachim Gerhardt, Dr. med. — Department of Ophthalmology, LMU University Hospital, Ludwig-Maximilians-Universität München
• Study coordinator: Sarah Marxsen
• Email: sarah.marxsen@med.uni-muenchen.de
• Phone: +49 89 4400 53770

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• PYC-001 eye injections for people with OPA1-related autosomal dominant optic atrophy

  This trial tests whether injections of PYC-001 into one eye are safe and what dosing schedule works best for adults with OPA1 mutation–related autosomal dominant optic atrophy.

  Recruiting at 3 sites Phase 1/2 PYC Therapeutics · Sydney, New South Wales and 2 other locations · NCT06970106

• Registry for patients with rare diseases

  This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

  Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.