Spina BifidaEXOSPINANCT02854150
Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing
An observational study of Spina Bifida, run by Rennes University Hospital at 1 site in France.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Spina Bifida
- What is being tested?
- characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.
- How many people
- 106 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2015to 30 Jun 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Spina Bifida patients (without age restriction), attending the genetic consultation at the National Reference Centre for Spina Bifida
Who may be able to join
- 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.
Who cannot join
- Patients who refused to give their authorization to perform the sequencing of genes involved in Spina Bifida on their DNA
Trial locations and contacts
1 site in 1 country.
About this study
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.
- Conditions
- Spina Bifida
- Being tested
- characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.
- Medical subject headings
- Spinal Dysraphism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.Genetic
What is being measured
The primary outcome is the main question the study is designed to answer.
absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome)
Measured: through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Aug 2016 (estimated)
- Study startSep 2015
- Primary completion30 Jun 2016
- Study completion30 Jun 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spina BifidaStudies of the same condition, open and under way.
- More trials run by Rennes University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 106 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rennes University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02854150
- Sponsor's protocol ID
- 35RC14_9736
- Acronym
- EXOSPINA
- Status last verified
- Sep 2018
- First submitted
- 26 Jul 2016
- Last updated
- 11 Sep 2018
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Sep 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing
- ClinicalTrials.gov ID
- NCT02854150
- Acronym / sponsor ID
- EXOSPINA / 35RC14_9736
- Conditions
- Spina Bifida
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 106 participants (actual)
- Lead sponsor
- Rennes University HospitalUniversity, hospital or other
- Study start
- Sep 2015
- Primary completion
- 30 Jun 2016 (actual)
- Study completion
- 30 Jun 2016 (actual)
- First posted
- 3 Aug 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Spina Bifida patients (without age restriction), attending the genetic consultation at the National Reference Centre for Spina Bifida
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- Patients who refused to give their authorization to perform the sequencing of genes involved in Spina Bifida on their DNA
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families. | Genetic | – |
Primary outcome
absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome)
Time frame: through study completion, an average of 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Sep 2018.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spina Bifida, run by Rennes University Hospital at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 11 Sep 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome) (time frame: through study completion, an average of 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Sep 2018; AzTrials last refreshed its copy on 1 Nov 2026.