Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials
Status: Completed
Location: See location...
Intervention Type: Diagnostic test
Study Type: Observational
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 3
Maximum Age: 100
Healthy Volunteers: f
View:
• 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.
Locations
Other Locations
United Kingdom
Moorfields Eye Hospital NHS Foundation Trust
London
Time Frame
Start Date: 2011-09-13
Completion Date: 2023-05-18
Participants
Target number of participants: 85
Treatments
Patients with Achromatopsia
Related Therapeutic Areas
Sponsors
Leads: MeiraGTx UK II Ltd