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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT02854150
Other study ID # 35RC14_9736
Secondary ID
Status Completed
Phase
First received
Last updated
Start date September 2015
Est. completion date June 30, 2016

Study information

Verified date September 2018
Source Rennes University Hospital
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


Recruitment information / eligibility

Status Completed
Enrollment 106
Est. completion date June 30, 2016
Est. primary completion date June 30, 2016
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility 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 Design


Related Conditions & MeSH terms


Intervention

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


Locations

Country Name City State
France Centre hospitalier universitaire de RENNES Rennes

Sponsors (1)

Lead Sponsor Collaborator
Rennes University Hospital

Country where clinical trial is conducted

France, 

Outcome

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