NCT02854150

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
106

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Sep 2015

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 1, 2015

Completed
10 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 30, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 30, 2016

Completed
26 days until next milestone

First Submitted

Initial submission to the registry

July 26, 2016

Completed
8 days until next milestone

First Posted

Study publicly available on registry

August 3, 2016

Completed
Last Updated

September 11, 2018

Status Verified

September 1, 2018

Enrollment Period

10 months

First QC Date

July 26, 2016

Last Update Submit

September 10, 2018

Conditions

Spina Bifida

Outcome Measures

Primary Outcomes (1)

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

    through study completion, an average of 1 year

Interventions

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

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

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

You may qualify if:

  • 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.

You may not qualify if:

  • Patients who refused to give their authorization to perform the sequencing of genes involved in Spina Bifida on their DNA

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Centre hospitalier universitaire de RENNES

Rennes, 35033, France

Location

MeSH Terms

Conditions

Spinal Dysraphism

Condition Hierarchy (Ancestors)

Neural Tube DefectsNervous System MalformationsNervous System DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 26, 2016

First Posted

August 3, 2016

Study Start

September 1, 2015

Primary Completion

June 30, 2016

Study Completion

June 30, 2016

Last Updated

September 11, 2018

Record last verified: 2018-09

Locations

FR(1)