Spina Bifida Clinical Trial
— EXOSPINAOfficial title:
Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing
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 |
Verified date | September 2018 |
Source | Rennes University Hospital |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
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 |
Country | Name | City | State |
---|---|---|---|
France | Centre hospitalier universitaire de RENNES | Rennes |
Lead Sponsor | Collaborator |
---|---|
Rennes University Hospital |
France,
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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