Genetic Disorders in PregnancyDEFINCT03688594
Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
A study testing NIPT Test in people with Genetic Disorders in Pregnancy, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
The aim of this study is to evaluate performances of a NIPT test based onto the study of the maternal blood to search known genetic mutations already detected in the family and potentially inherited by the fetus. This test will avoid an invasive prenatal diagnosis in those families with a known genetic risk. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Genetic Disorders in Pregnancy
- What is being tested?
- NIPT Test
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 60 participants
- Where
- 1 siteFrance
- Study dates
- 22 May 2018to 23 May 2019
- Phase
- Interventional
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Couple (father, mother) > 18 ans
- Pregnant woman (> 12-15 weeks of gestation) with a fetal sampling needed in standard care.
- informed consent obtained
- couple affiliated to the social insurance in France
Who cannot join
- DNA extraction failure
- Absence of informed consent
- Father or mother placed under judicial protection or under guardianship or tutorship
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Hôpitaux Universitaires de Strasbourg
Strasbourg
bénédicte GERARD, PharmD, PhD
About this study
The aim of this study is to evaluate performances of a NIPT test based onto the study of the maternal blood to search known genetic mutations already detected in the family and potentially inherited by the fetus. This test will avoid an invasive prenatal diagnosis in those families with a known genetic risk.
The performance of this test will be evaluated in terms of sensitivity and specificity with an adapted statistic model.
Read more
Secondary objectives of the protocol are
- To adapt NIPT to small DNA quantity (5-50 ng)
- To adapt bioinformatics pipeline to low rate of mosaicism
- To develop a tool to quantify the fetal fraction
- To evaluate the robustness of the method
This test is based onto capture and high throw put sequencing adapted to cell free plasmatic DNA of pregnant women in order to detect point mutation present in her fetus. This approach has been previously described for others clinical applications such as liquid biopsy in cancers but not for NIPT analysis.
- Conditions
- Genetic Disorders in Pregnancy
- Being tested
- NIPT Test
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NIPT TestDiagnostic test
This test is based onto capture and high throw put sequencing adapted to cell free plasmatic DNA of pregnant women in order to detect point mutation present in her fetus. This approach has been previously described for others clinical applications such as liquid biopsy in cancers but not for NIPT analysis.
| Study group | Role | What they receive |
|---|---|---|
| couple : man and pregnant women | Experimental | Not described Receives: Diagnostic Test: NIPT Test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Detection yield of fetal paternally transmitted single nucleotid variations (SNV) in free cell maternal DNA Absence of non fetal paternally transmitted single nucleotid variations (SNV) in maternal free cell DNA (cfDNA)
Measured: Measurement will be performed at the end of the protocol (12 months)
Secondary outcomes (1)
Comparison of SNV detection efficiency of several bioinformatics pipeline Robustness evaluation in function of - Fetal percent in cfDNA - Genomic region - Initial input of cfDNA
Measured: Measurement will be performed at the end of the protocol (12 months)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Sep 2018
- Study start22 May 2018
- Primary completion22 May 2019 (estimated)
- Study completion23 May 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic Disorders in PregnancyStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03688594
- Sponsor's protocol ID
- 6792
- Acronym
- DEFI
- Status last verified
- Sep 2018
- First submitted
- 26 Sep 2018
- Last updated
- 28 Sep 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Sep 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
- ClinicalTrials.gov ID
- NCT03688594
- Acronym / sponsor ID
- DEFI / 6792
- Conditions
- Genetic Disorders in Pregnancy
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 22 May 2018 (actual)
- Primary completion
- 22 May 2019 (estimated)
- Study completion
- 23 May 2019 (estimated)
- First posted
- 28 Sep 2018 (actual)
- 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 aim of this study is to evaluate performances of a NIPT test based onto the study of the maternal blood to search known genetic mutations already detected in the family and potentially inherited by the fetus. This test will avoid an invasive prenatal diagnosis in those families with a known genetic risk.
The performance of this test will be evaluated in terms of sensitivity and specificity with an adapted statistic model.
Secondary objectives of the protocol are
- To adapt NIPT to small DNA quantity (5-50 ng)
- To adapt bioinformatics pipeline to low rate of mosaicism
- To develop a tool to quantify the fetal fraction
- To evaluate the robustness of the method
This test is based onto capture and high throw put sequencing adapted to cell free plasmatic DNA of pregnant women in order to detect point mutation present in her fetus. This approach has been previously described for others clinical applications such as liquid biopsy in cancers but not for NIPT analysis.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| couple : man and pregnant women | Experimental | Diagnostic Test: NIPT Test |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Couple (father, mother) > 18 ans
- Pregnant woman (> 12-15 weeks of gestation) with a fetal sampling needed in standard care.
- informed consent obtained
- couple affiliated to the social insurance in France
Key exclusion criteria (3 listed)
- DNA extraction failure
- Absence of informed consent
- Father or mother placed under judicial protection or under guardianship or tutorship
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 |
|---|---|---|
| NIPT TestThis test is based onto capture and high throw put sequencing adapted to cell free plasmatic DNA of pregnant women in order to detect point mutation present in her fetus. This approach has been previously described for others clinical applications such as liquid biopsy in cancers but not for NIPT analysis. | Diagnostic test | couple : man and pregnant women |
Primary outcome
Detection yield of fetal paternally transmitted single nucleotid variations (SNV) in free cell maternal DNA Absence of non fetal paternally transmitted single nucleotid variations (SNV) in maternal free cell DNA (cfDNA)
Time frame: Measurement will be performed at the end of the protocol (12 months)
1 secondary outcome
Comparison of SNV detection efficiency of several bioinformatics pipeline Robustness evaluation in function of - Fetal percent in cfDNA - Genomic region - Initial input of cfDNA
Time frame: Measurement will be performed at the end of the protocol (12 months)
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing NIPT Test in people with Genetic Disorders in Pregnancy, run by University Hospital, Strasbourg, France 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 4 inclusion and 3 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: status not confirmed, as of the sponsor's last update on 28 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Bénédicte GERARD, PharmD, PhD (03 69 55 07 77, benedicte.gerard@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Detection yield of fetal paternally transmitted single nucleotid variations (SNV) in free cell maternal DNA Absence of non fetal paternally transmitted single nucleotid variations (SNV) in maternal free cell DNA (cfDNA) (time frame: Measurement will be performed at the end of the protocol (12 months)). 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 28 Sep 2018.