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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02854150

Acronym

EXOSPINA

Enrollment

106

Registered

2016-08-03

Start date

2015-09-30

Completion date

2016-06-30

Last updated

2018-09-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Spina Bifida

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.

Interventions

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

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

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

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026