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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02558478

Acronym

GEN-NEUROSENS

Enrollment

Registered

2015-09-24

Start date

2015-09-30

Completion date

2018-09-30

Last updated

2016-12-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hearing Loss, Neurosensory Diseases, Retinopathy

Keywords

Whole exome sequencing

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.

Interventions

GENETICblood sampling

Study design

Observational model

FAMILY_BASED

Eligibility

Sex/Gender

ALL

Age

28 Days to 65 Years

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)

Design outcomes

Primary

Measure	Time frame
Whole exome sequencing data	21 months

Countries

France

Contacts

Primary ContactSophie SCHEIDECKER, MD

SOPHIE.scheidecker@chru-strasbourg.fr33.3.88.12.73.33

Backup ContactJean MULLER, PHD

jean.muller@chru-strasbourg.fr33.3.69.55.11.66

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026