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OpenTrials
Completed

NCT Number: NCT02854150

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

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.

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Key information

Conditions

Spina Bifida Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Nervous System Diseases Nervous System Malformations Neural Tube Defects Spinal Dysraphism

Sex eligibility

All sexes

Study type

Observational

Primary location

Centre hospitalier universitaire de RENNES

Rennes, 35033, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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

Genetic

Primary outcomes

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

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

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Sponsors and collaborators

Lead sponsor

Rennes University Hospital

Other

Registry information

Acronym: EXOSPINA

Important dates

Study start
2015
Primary completion
2016
Study completion
2016
First posted
Aug 3, 2016
Registry last updated
Sep 11, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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