Natural History Study for Achromatopsia
Completed
- Conditions
- Achromatopsia
- Interventions
- Diagnostic Test: Ocular assessments
- Registration Number
- NCT04124185
- Lead Sponsor
- MeiraGTx UK II Ltd
- Brief Summary
In preparation for human clinical trials we intend to undertake a detailed phenotypic study to help to identify patients who may be suitable for therapeutic intervention. In addition, with the recent availability of advanced imaging modalities, further detailed phenotypic investigations will also be valuable in helping to probe the relationship between structure and function and may shed light on disease mechanisms.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 85
Inclusion Criteria
- Patients with molecularly proven Achromatopsia or a typical clinical Achromatopsia phenotype with genetic screening pending.
- Minimum subject age of 3 years.
- Able to give consent/parent or guardian able to give consent.
Exclusion Criteria
- Patients unable or unwilling to undertake consent or clinical testing.
- Patients unwilling to donate a blood sample in order to establish the genetic cause of their condition.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Patients with Achromatopsia Ocular assessments -
- Primary Outcome Measures
Name Time Method Contrast sensitivity 5 years Axial length 5 years Optical Coherence Tomography 5 years Visual acuity 5 years Corneal curvature 5 years Complete ocular examination 5 years
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Moorfields Eye Hospital NHS Foundation Trust
🇬🇧London, United Kingdom