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

September 10, 2018 updated by: Rennes University Hospital
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 Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

106

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Rennes, France, 35033
        • Centre Hospitalier Universitaire de Rennes

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Spina Bifida patients (without age restriction), attending the genetic consultation at the National Reference Centre for Spina Bifida

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Rennes University Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2015

Primary Completion (Actual)

June 30, 2016

Study Completion (Actual)

June 30, 2016

Study Registration Dates

First Submitted

July 26, 2016

First Submitted That Met QC Criteria

August 2, 2016

First Posted (Estimate)

August 3, 2016

Study Record Updates

Last Update Posted (Actual)

September 11, 2018

Last Update Submitted That Met QC Criteria

September 10, 2018

Last Verified

September 1, 2018

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 35RC14_9736

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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