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

Spina Bifida Clinical Trial

— EXOSPINA  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02854150
• Other study ID #: 35RC14_9736
• Status: Completed
• Start date: September 2015
• Est. completion date: June 30, 2016

Study information

• Verified date: September 2018
• Source: Rennes University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 106
• Est. completion date: June 30, 2016
• Est. primary completion date: June 30, 2016
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Spina Bifida
• Spinal Dysraphism

Intervention

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

Locations

Country	Name	City	State
France	Centre hospitalier universitaire de RENNES	Rennes

Sponsors (1)

Lead Sponsor	Collaborator
Rennes University Hospital

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome)		through study completion, an average of 1 year