Natural History Study for Achromatopsia
Cone Dystrophy / Posted 1 year ago
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.
Inclusion Criteria :
- Ages Eligible for Study: 3 Years to 100 Years (Child, Adult, Older Adult)
- Sexes Eligible for Study: All
- Accepts Healthy Volunteers: No
- 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 start date : September 13, 2011
- Study end date : May 2025
- Wales-Based Study Contact : Please speak to your clinician
- Principal Investigator : Dr. Michel Michaelides