Improving Genetic Counseling for Patients With Spina Bifi... | NCT02854150

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

NCT02854150

Sponsor

Rennes University Hospital

Status

Completed

Last Update Posted

Sep 11, 2018Actual

Enrollment

106Actual

Phase

Not provided

Conditions

Spina Bifida

Interventions

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

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2018

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 2015

Primary Completion Date

Jun 30, 2016Actual

Completion Date

Jun 30, 2016Actual

First Submitted Date

Jul 26, 2016

First Submission Date that Met QC Criteria

Aug 2, 2016

First Posted Date

Aug 3, 2016Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 10, 2018

Last Update Posted Date

Sep 11, 2018Actual

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

106Actual

Arms/Interventions Module

Arm Groups

Not provided

Interventions

Name	Type	Description	Arm Group Labels	Other Names
characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.	Genetic

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Centre hospitalier universitaire de RENNES		Rennes		35033	France

Condition Browse Module

MeSH Terms

ID	Term
D016135	Spinal Dysraphism

Ancestor Terms

ID	Term
D009436	Neural Tube Defects
D009421	Nervous System Malformations
D009422	Nervous System Diseases
D000013	Congenital Abnormalities

Browse Leaves

Not provided

Browse Branches

Not provided