Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing (GEN-NEUROSENS)

University Hospital, Strasbourg, France

Status: Unknown

Conditions: Retinopathy; Neurosensory Diseases; Hearing Loss

Treatments: Genetic: blood sampling

Study type: Observational

Funder types: Other

Identifiers

NCT02558478

5885

Details and patient eligibility

About

Next Generation Sequencing (NGS) strategy is a powerful tool to identify genes implicated in very rare diseases for which the previous genetic explorations remain negative to date. The aim of this project is based on groups of patients with original clinical phenotypes including neurosensory impairment without genetic cause identified to date. The investigators will study these families using whole exome sequencing to potentially identify new genes and new underlying biological pathways involved in neurosensory diseases.

Enrollment: 39 estimated patients

Sex: All

Ages: 28 days to 65 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Original phenotype with neurosensory diseases
• Written, informed consent obtained

Exclusion criteria

• Refusal to participate at the study
• Prior inclusion in a similar study (NGS)