Fetal MalformationPRENATEXNCT04406480
Realization of Sequencing of All Known Human Genes in Case of Detection of Cerebral, Renal or Ophthalmological Fetal Malformations During Pregnancy in Order to Make an Etiological Diagnosis and to Precise the Fetal Prognosis
A study testing CGH-array and exome sequencing in people with Fetal Malformation and Pregnancy Related, run by University Hospital, Strasbourg, France at 12 sites in France.
Trial summary
Congenital malformations concern 3% of pregnancies; most of them can be seen during pregnancy. For some malformations, an invasive sample (trophoblast biopsy or amniocentesis) is proposed to search a chromosomal abnormality by the technique of DNA chip. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fetal Malformation, Pregnancy Related, Rare Genetic Disease
- What is being tested?
- CGH-array and exome sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 90 participants
- Where
- 12 sitesFrance
- Study dates
- 5 Aug 2020to Sep 2023
- 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
- Father and mother of an unborn child past the age of majority
- Consent dated and signed by the mother and by the father
- Father and mother able to understand the objectives and risks of the study
- For the mother, pregnancy in progress (between 12 and 34 weeks)
- For the mother, pregnancy with the presence of a malformation on ultrasound, confirmed by a doctor from the multidisciplinary diagnostic prenatal center, entering into the indications retained for this study
- Clinical validation of the couple's eligibility by an expert for some of selected indications
- Father and mother affiliated to a social protection health
Who cannot join
- Identified genetic or chromosomal abnormality explaining the observed malformation
- Inability to give informations to the father and / or mother (father or mother in emergency or life-threatening situation)
- Father and / or mother under the protection of justice
- Father and / or mother under guardianship or curatorship
- Nursing woman
Trial locations and contacts
12 sites in 1 country.
12 sites in 1 country
France12 sites, 12 recruiting
- Not yet recruiting
CHu de Besançon
Besançon, 25030
Lionel VAN MALDERGEM, +33 3 81 21 81 87, lionel.van-maldergem@inserm.fr
Lionel VAN MALDERGEM
- Not yet recruiting
CHU de Dijon
Dijon, 21079
Christel THAUVIN, +33 3 80 29 53 13, Christel.thauvin@chu-dijon.fr
Christel THAUVIN
- Not yet recruiting
Hospices Civils de Lyon
Lyon
Audrey PUTOUX, +33 4 27 85 50 83, Audrey.putoux@chu-lyon.fr
Audrey PUTOUX
- Not yet recruiting
Groupe Hospitalier Region Mulhouse Et Sud Alsace
Mulhouse, 68070
Emmanuelle GINGLINGER, +33 3 89 64 87 03, GINGLINGERE@ghrmsa.fr
Emmanuelle GINGLINGER
- Not yet recruiting
CHU de Nancy
Nancy, 54042
Laetitia LAMBERT, +33 3 83 34 43 76, l.lambert@chru-nancy.fr
Laetitia LAMBERT
- Not yet recruiting
Hôpital d'Enfants Armand-Trousseau
Paris, 75012
Alexandra AFENJAR, +33 1 44 73 61 86, Alexandra.afenjar@aphp.fr
Alexandra AFENJAR
- Not yet recruiting
Hôpital de la Pitié Salpêtrière
Paris, 75013
Delphine HERON, +33 1 42 16 13 47, Delphine.heron@aphp.fr
Delphine HERON
- Not yet recruiting
Hôpital Necker Enfants Malades
Paris, 75743
Tania ATTIE-BITACH, +33 1 44 49 51 44, tania.attie@inserm.fr
Tania ATTIE-BITACH
- Not yet recruiting
CHU de Reims
Reims, 51092
Martine DOCO-FENZY, +33 3 26 78 90 03, mdocofenzy@chu-reims.fr
Martine DOCO-FENZY
- Not yet recruiting
CHU de Rennes
Rennes, 35203
Sylvie ODENT, +33 2 99 26 67 44, Sylvie.odent@chu-rennes.fr
Sylvie ODENT
- Recruiting
Les Hôpitaux Universitaires de Strasbourg
Strasbourg, 67098
Elise SCHAEFER, +33 3 88 12 81 20, elise.schaefer@chru-strasbourg.fr
Elise SCHAEFER
- Not yet recruiting
CHU de Toulouse
Toulouse, 31059
Patrick CALVAS, +33 5 61 77 90 51, calvas.p@chu-toulouse.fr
Patrick CALVAS
About this study
Official title: Contribution of the Exome Sequencing in Antenatal Period Behind Ultrasound Features Suggestive of a Rare Genetic Disease
Congenital malformations concern 3% of pregnancies; most of them can be seen during pregnancy. For some malformations, an invasive sample (trophoblast biopsy or amniocentesis) is proposed to search a chromosomal abnormality by the technique of DNA chip. However, some strongly suggestive signs of a genetic (and not chromosomal) pathology have a very low diagnostic rate with this technique. In the absence of an etiological diagnosis, the prognosis for the unborn child is very difficult to assess, as we can't know if the fetal malformation is really isolated or associted to other unseen features as part of a syndromic condition.
For some malformations strongly suggestive of a genetic condition, we propose to realize an exome (i.e. all coding parts of the genome) sequencing of the trio (child and the 2 parents) with a delivery time compatible with the emergency situation of a pregnancy (6 weeks maximum). We will apply bioinformatics filters to analyse only genes known to be involved in the malformation present in the unborn child and thus avoid the identification of variants in unrelated genes. These lists of genes have been previously validated by the Rare Disease Health Sectors and the affiliated diagnostic laboratories. The selected malformations are: 1) anomalies of the central nervous system (microcephaly (<- 2DS) with anomalies of gyration, anomalies of the posterior fossa, anomalies of the midline except agenesis of the corpus callosum), 2) ophthalmological anomalies (microphthalmia, hyperplasia vitreous) and 3) renal abnormalities (large hyperechoic kidneys).
- Conditions
- Fetal Malformation, Pregnancy Related, Rare Genetic Disease
- Being tested
- CGH-array and exome sequencing
- Keywords
- Fetal malformations, Exome sequencing, antenatal cerebral malformations, antenatal ocular malformations, antenatal large hyperechoic kidneys
- Medical subject headings
- Congenital Abnormalities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
CGH-array and exome sequencingGenetic
A blood sample will be used for CGH-array and exome sequencing
| Study group | Role | What they receive |
|---|---|---|
| 90 trios (270 subjects: 90 fetus, 90 mothers, 90 fathers) | Other | Not described Receives: Genetic: CGH-array and exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic contribution of the exome sequencing in antenatal period in comparison with the chromosomal analysis (CGH-array) realized in current health care
Comparison of the number of genetic diagnoses made by exome sequencing and by CGH-array.
Measured: 13 months
Secondary outcomes (2)
Effects on pregnancy management and/or postnatal child care due to an etiological diagnosis
Percentage of antenatal and/or postnatal fetus/child care modified by the molecular result
Measured: 13 months
Feasibility study of carrying out exome sequencing in the antenatal period in terms of time to deliver results
Time to results from the inclusion of the trio (in days) specifying the time for each step (reception, sequencing, bioinformatics analysis, interpretation) (in days)
Measured: 13 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 May 2020
- Study start5 Aug 2020
- Primary completionSep 2021 (estimated)
- Study completionSep 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fetal MalformationStudies 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
- 90 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
- NCT04406480
- Sponsor's protocol ID
- 7344
- Acronym
- PRENATEX
- Status last verified
- Nov 2020
- First submitted
- 26 May 2020
- Last updated
- 13 Nov 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 13 Nov 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Contribution of the Exome Sequencing in Antenatal Period Behind Ultrasound Features Suggestive of a Rare Genetic Disease
- ClinicalTrials.gov ID
- NCT04406480
- Acronym / sponsor ID
- PRENATEX / 7344
- Conditions
- Fetal Malformation, Pregnancy Related, Rare Genetic Disease
- Keywords
- Fetal malformations, Exome sequencing, antenatal cerebral malformations, antenatal ocular malformations, antenatal large hyperechoic kidneys
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 90 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 5 Aug 2020 (actual)
- Primary completion
- Sep 2021 (estimated)
- Study completion
- Sep 2023 (estimated)
- First posted
- 28 May 2020 (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.
Congenital malformations concern 3% of pregnancies; most of them can be seen during pregnancy. For some malformations, an invasive sample (trophoblast biopsy or amniocentesis) is proposed to search a chromosomal abnormality by the technique of DNA chip. However, some strongly suggestive signs of a genetic (and not chromosomal) pathology have a very low diagnostic rate with this technique. In the absence of an etiological diagnosis, the prognosis for the unborn child is very difficult to assess, as we can't know if the fetal malformation is really isolated or associted to other unseen features as part of a syndromic condition.
For some malformations strongly suggestive of a genetic condition, we propose to realize an exome (i.e. all coding parts of the genome) sequencing of the trio (child and the 2 parents) with a delivery time compatible with the emergency situation of a pregnancy (6 weeks maximum). We will apply bioinformatics filters to analyse only genes known to be involved in the malformation present in the unborn child and thus avoid the identification of variants in unrelated genes. These lists of genes have been previously validated by the Rare Disease Health Sectors and the affiliated diagnostic laboratories. The selected malformations are: 1) anomalies of the central nervous system (microcephaly (<- 2DS) with anomalies of gyration, anomalies of the posterior fossa, anomalies of the midline except agenesis of the corpus callosum), 2) ophthalmological anomalies (microphthalmia, hyperplasia vitreous) and 3) renal abnormalities (large hyperechoic kidneys).
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 90 trios (270 subjects: 90 fetus, 90 mothers, 90 fathers) | Other | Genetic: CGH-array and exome sequencing |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (7 listed)
- Father and mother of an unborn child past the age of majority
- Consent dated and signed by the mother and by the father
- Father and mother able to understand the objectives and risks of the study
- For the mother, pregnancy in progress (between 12 and 34 weeks)
- For the mother, pregnancy with the presence of a malformation on ultrasound, confirmed by a doctor from the multidisciplinary diagnostic prenatal center, entering into the indications retained for this study
Key exclusion criteria (5 listed)
- Identified genetic or chromosomal abnormality explaining the observed malformation
- Inability to give informations to the father and / or mother (father or mother in emergency or life-threatening situation)
- Father and / or mother under the protection of justice
- Father and / or mother under guardianship or curatorship
- Nursing woman
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 |
|---|---|---|
| CGH-array and exome sequencingA blood sample will be used for CGH-array and exome sequencing | Genetic | 90 trios (270 subjects: 90 fetus, 90 mothers, 90 fathers) |
Primary outcome
Diagnostic contribution of the exome sequencing in antenatal period in comparison with the chromosomal analysis (CGH-array) realized in current health care
Time frame: 13 months
Comparison of the number of genetic diagnoses made by exome sequencing and by CGH-array.
2 secondary outcomes
Effects on pregnancy management and/or postnatal child care due to an etiological diagnosis
Time frame: 13 months
Feasibility study of carrying out exome sequencing in the antenatal period in terms of time to deliver results
Time frame: 13 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Nov 2020.
- Individual participant dataSharing planned: Undecided
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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.
12 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing CGH-array and exome sequencing in people with Fetal Malformation and Pregnancy Related, run by University Hospital, Strasbourg, France at 12 sites 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 7 inclusion and 5 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 13 Nov 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 12 sites 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 Elise SCHAEFER (+33 3 88 12 81 20, elise.schaefer@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic contribution of the exome sequencing in antenatal period in comparison with the chromosomal analysis (CGH-array) realized in current health care (time frame: 13 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 13 Nov 2020.