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

NCT ID: NCT02558478

Last Updated: 2016-12-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

39 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-09-30

Study Completion Date

2018-09-30

Brief Summary

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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.

Detailed Description

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Conditions

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Neurosensory Diseases Retinopathy Hearing Loss

Keywords

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Whole exome sequencing

Study Design

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Observational Model Type

FAMILY_BASED

Interventions

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blood sampling

Intervention Type GENETIC

Eligibility Criteria

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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)
Minimum Eligible Age

28 Days

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University Hospital, Strasbourg, France

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Sophie SCHEIDECKER, MD

Role: PRINCIPAL_INVESTIGATOR

Hôpitaux Universitaires de Strasbourg

Locations

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LABORATOIRE DE CYTOGENETIQUE, Hôpitaux Universitaires de Strasbourg

Strasbourg, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Sophie SCHEIDECKER, MD

Role: CONTACT

Phone: 33.3.88.12.73.33

Email: [email protected]

Jean MULLER, PHD

Role: CONTACT

Phone: 33.3.69.55.11.66

Email: [email protected]

Facility Contacts

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Sophie SCHEIDECKER, MD

Role: primary

Other Identifiers

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5885

Identifier Type: -

Identifier Source: org_study_id