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

Completed

• Conditions: Spina Bifida

• Registration Number: NCT02854150
• Lead Sponsor: Rennes University Hospital

Brief Summary

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

Not available

Study Timeline

• Study Start: 2015-09
• Primary Completion: 2016-06-30
• Study Completion: 2016-06-30
• Study First Submitted: 2016-07-26
• Study First Submitted QC: 2016-08-02
• Study First Posted: 2016-08-03
• Status Verified: 2018-09
• Last Update Submitted: 2018-09-10
• Last Update Posted: 2018-09-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 106

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome)	through study completion, an average of 1 year

Trial Locations

Locations (1)

Centre hospitalier universitaire de RENNES; 🇫🇷 Rennes, France