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

• Sponsor: University Hospital, Strasbourg, France (Other)
• Overall Status: Unknown status
• CT.gov ID: NCT02558478
• Collaborator: (none)
• Enrollment: 39
• Location: 1
• Duration (Months): 36
• Patients Per Site Per Month: 1.1

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Neurosensory Diseases; Retinopathy; Hearing Loss	Genetic: blood sampling

Study Design

• Study Type: Observational
• Anticipated Enrollment: 39 participants
• Observational Model: Family-Based
• Official Title: Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing
• Study Start Date: Sep 1, 2015
• Anticipated Primary Completion Date: Sep 1, 2018
• Anticipated Study Completion Date: Sep 1, 2018

Outcome Measures

Primary Outcome Measures

1. Whole exome sequencing data [21 months]

Eligibility Criteria

Criteria

• Ages Eligible for Study: 28 Days to 65 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes

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)

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	LABORATOIRE DE CYTOGENETIQUE, Hôpitaux Universitaires de Strasbourg	Strasbourg		France	67091

Sponsors and Collaborators

• University Hospital, Strasbourg, France

Investigators

• Principal Investigator: Sophie SCHEIDECKER, MD, Hôpitaux Universitaires de Strasbourg

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: University Hospital, Strasbourg, France
• ClinicalTrials.gov Identifier: NCT02558478
• Other Study ID Numbers: 5885
• First Posted: Sep 24, 2015
• Last Update Posted: Dec 7, 2016
• Last Verified: Dec 1, 2016

• Keywords provided by University Hospital, Strasbourg, France: Whole exome sequencing
• Additional relevant MeSH terms: Hearing Loss

Study Results

No Results Posted as of Dec 7, 2016