Overview

This trial is active, not recruiting.

Condition spina bifida
Treatment characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.
Sponsor Rennes University Hospital
Start date September 2015
End date September 2017
Trial size 100 participants
Trial identifier NCT02854150, 35RC14_9736

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.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Observational model cohort
Time perspective retrospective

Primary Outcomes

Measure
absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome)
time frame: through study completion, an average of 1 year

Eligibility Criteria

Male or female participants of any age.

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

Additional Information

Official title Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing
Trial information was received from ClinicalTrials.gov and was last updated in August 2016.
Information provided to ClinicalTrials.gov by Rennes University Hospital.