Study of New Mutations in Cone Disorders

Launched by UNIVERSITY HOSPITAL, LILLE · Dec 7, 2020

Keywords

ClinConnect Summary

This clinical trial is studying genetic changes related to cone disorders, which are types of retinal dystrophy affecting vision. Researchers are using advanced sequencing techniques to better understand genetic mutations in patients who have been diagnosed with these eye conditions. Many of these mutations are found in parts of genes that may not clearly indicate whether they are harmful or not. To determine their impact, the study involves analyzing blood and skin cells from participants to see how these mutations affect the way genes are expressed.

If you or a family member has been diagnosed with a cone disorder and have a genetic variant that isn’t fully understood, you might be eligible to participate. Participants must be willing to provide samples and give informed consent. Throughout the study, you can expect to contribute to important research that could help clarify the genetic causes of these eye disorders, potentially leading to better diagnoses and treatments in the future. The trial is open to individuals of all ages and genders who meet the necessary criteria.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • clinical diagnosis of cone disorder
• • identification of a variant of unknown significance
• • possibility of samplings
• • informed consent
• Exclusion Criteria:
• • no variant of unknown significance identified
• • no informed consent