Trials / Terminated
TerminatedNCT06140329
Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation
A Natural History Study in Patients With Genetically Confirmed Diagnosis of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation
- Status
- Terminated
- Phase
- —
- Study type
- Observational
- Enrollment
- 1 (actual)
- Sponsor
- PYC Therapeutics · Industry
- Sex
- All
- Age
- 8 Years
- Healthy volunteers
- Not accepted
Summary
The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.
Detailed description
This is a multi-center, longitudinal, prospective, observational natural history study of patients with confirmed OPA1 mutation (haploinsufficiency) associated ADOA. The study will be conducted at up to 10 sites across the United States, Australia and Europe. Each participant's medical record will be reviewed for historical information, and clinical data will be recorded in a secure database. Natural history data will be collected prospectively and will include ophthalmic exams, imaging studies and electrophysiological testing. Assessments will be conducted as described in this protocol approximately every 3 months in the first year and every 6 months in the second year of the study after each participant's baseline visit
Conditions
- Autosomal Dominant Optic Atrophy
- Optic Atrophy, Autosomal Dominant
- Optic Atrophies, Hereditary
- Kjer Optic Atrophy
Timeline
- Start date
- 2024-02-28
- Primary completion
- 2025-03-01
- Completion
- 2025-03-10
- First posted
- 2023-11-18
- Last updated
- 2025-03-14
Locations
7 sites across 6 countries: United States, Australia, Austria, France, Germany, Netherlands
Source: ClinicalTrials.gov record NCT06140329. Inclusion in this directory is not an endorsement.