Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing

NCT ID: NCT02854150

Last Updated: 2018-09-11

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

COMPLETED

Total Enrollment

106 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-09-30

Study Completion Date

2016-06-30

Brief Summary

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The main objective is to improve genetic counseling in patients with Spina Bifida, by the characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.

Detailed Description

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Conditions

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Spina Bifida

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Interventions

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characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* Spina Bifida patients (without age restriction), attending the genetic consultation at the National Reference Centre for Spina Bifida. These patients gave their written agreement for studying genes which could be involved in Spina Bifida.

Exclusion Criteria

* Patients who refused to give their authorization to perform the sequencing of genes involved in Spina Bifida on their DNA
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Rennes University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Centre hospitalier universitaire de RENNES

Rennes, , France

Site Status

Countries

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France

Other Identifiers

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35RC14_9736

Identifier Type: -

Identifier Source: org_study_id

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