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

NCT02558478 | Unknown

• 1 other identifier: 5885
• Study Type: observational
• Target: 39
• Locations: 1 country
• Sites: 1

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.

Conditions

Neurosensory Diseases; Retinopathy; Hearing Loss

Keywords

Whole exome sequencing

Outcome Measures

Primary Outcomes (1)

• Whole exome sequencing data

  21 months

Interventions

blood sampling GENETIC

Eligibility Criteria

• Age: 28 Days - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This project focuses on families with unsual phenotypes who have sensorineural disease with retinal degeneration AND/OR deafness. Our first hypothesis is that these clinical entities are associated with new genes not described to date. However, it is impossible to exclude at this stage an allelic variability (mutations in genes already known but with an unusual phenotype) or mutations in genes implicated in neurosensory diseases but not detected by prior exploration. These situations illustrate the problem of genetic complexity and difficulty of the phenotype correlations - genotype.

You may qualify if:

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

You may not qualify if:

• Refusal to participate at the study

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

LABORATOIRE DE CYTOGENETIQUE, Hôpitaux Universitaires de Strasbourg

Strasbourg, 67091, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

DNA Fibroblasts

MeSH Terms

Conditions

Retinal Diseases; Hearing Loss

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Eye Diseases; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Sophie SCHEIDECKER, MD

  Hôpitaux Universitaires de Strasbourg

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sophie SCHEIDECKER, MD

CONTACT

33.3.88.12.73.33; SOPHIE.scheidecker@chru-strasbourg.fr

Jean MULLER, PHD

CONTACT

33.3.69.55.11.66; jean.muller@chru-strasbourg.fr

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 11, 2015
• First Posted: September 24, 2015
• Study Start: September 1, 2015
• Primary Completion: September 1, 2018
• Study Completion: September 1, 2018
• Last Updated: December 7, 2016

Record last verified: 2016-12

Locations

FR (1)