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

Rennes University Hospital106 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

106

Conditions

Spina Bifida

Interventions

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

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

Centre hospitalier universitaire de RENNES

Rennes, France

Outcomes

Primary Outcomes

absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome)

Time frame: through study completion, an average of 1 year

Data from ClinicalTrials.gov

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