Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing

Hearing Loss Clinical Trial

— GEN-NEUROSENS  

Official title:

Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02558478
• Other study ID #: 5885
• Status: Recruiting
• Phase: N/A
• First received: September 11, 2015
• Last updated: December 6, 2016
• Start date: September 2015
• Est. completion date: September 2018

Study information

• Verified date: December 2016
• Source: University Hospital, Strasbourg, France
• Contact: Sophie SCHEIDECKER, MD
• Phone: 33.3.88.12.73.33
• Email: SOPHIE.scheidecker[@]chru-strasbourg.fr
• Is FDA regulated: No
• Health authority: FRANCE: ANSM
• Study type: Observational

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 39
• Est. completion date: September 2018
• Est. primary completion date: September 2018
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: N/A to 65 Years

Eligibility

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)

Study Design

Observational Model: Family-Based

Related Conditions & MeSH terms

• Hearing Loss
• Neurosensory Diseases
• Retinopathy

Intervention

Genetic:
• blood sampling

Locations

Country	Name	City	State
France	LABORATOIRE DE CYTOGENETIQUE, Hôpitaux Universitaires de Strasbourg	Strasbourg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Whole exome sequencing data		21 months	No