Monogenic DiseasesDIAFEXOMENCT03743948
NIPD of CFTC by WGA Coupled to Mini-exome Sequencing
A study testing Non invasive prenatal diagnosis in people with Monogenic Diseases, run by University Hospital, Montpellier at 1 site in France.
Trial summary
The purprose of this study is to develop a single test based on circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation for a wide range of monogenic diseases. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Monogenic Diseases
- What is being tested?
- Non invasive prenatal diagnosis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 18 participants
- Where
- 1 siteFrance
- Study dates
- 19 Dec 2018to 27 Aug 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
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- older than 18 years old
- pregnant woman between 9 and 34 weeks of gestation
- Couple undergoing prenatal diagnosis for a monogenic disease caused by point mutation(s)
- Written informed consent was obtained for the study
- Prenatal diagnosis has been programmed for the current pregnancy during which maternal blood is collected
- Couple molecular diagnosis results for a monogenic disease caused by point mutation(s) MUST BE AVAILABLE.
Who cannot join
- Couple Genomic DNA are unavailable
- Subjects at risk of transmitting the family disease, but not wishing to know their molecular status
- Individuals under guardianship by court order
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Monogenic Diseases
The purprose of this study is to develop a single test based on circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation for a wide range of monogenic diseases.
Read the detailed description
Context:
Non Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA) is very promising for early diagnosis of monogenic diseases. Such an approach is a safer alternative to invasive methods of prenatal testing (amniocentesis or choriocentesis) which entails a significant risk of miscarriage (0.5%-1%). However, technical issues related to the characteristics of cff-DNA remain, and NIPD techniques require long process development which are specific for a gene and/or a particular mutation.
Objectives:
The objective of this study is to complete our offer of NIPD by developing an approach on isolated Circulating Trophoblastic Fetal Cells (CFTC) adapted to the analysis of the genes and mutations involved in current prenatal testing requests.
Methodology :
The blood of pregnant women from 9 weeks of gestation for which a prenatal testing is requested will be collected.
CFTC isolation using Circulating Tumor Cells (CTCs) enrichment systems will be followed by whole genome amplification coupled to mini-exome sequencing and bioinformatic filtering that will be specific to the prenatal testing indication.
The study will be carried out in 2 stages:
- analytical validation of the method by studying the data quality of the sequencing of targeted genes that are frequently subject to prenatal testing (see prenatal testing diseases list from "ABM DPN 2014" in Appendix 2).
- clinical evaluation of the method by checking the concordance between the results obtained by our new approach versus those obtained by standard procedure (amniocentesis or choriocentesis) for 15 pregnant women.
Expected results and perspectives:
The purpose of this study is to establish the proof of concept of a semi-universal NIPD method based on a simple maternal blood test that could be applied on most rare diseases requiring prenatal testing.
This NIPD approach would reduce the number of invasive procedures and thus eliminate the risk of miscarriage due to amniocentesis or choriocentesis. It would also enable national access to this NIPD test for a wide range of rare diseases.
- Conditions
- Monogenic Diseases
- Being tested
- Non invasive prenatal diagnosis
- Keywords
- Non Invasive Prenatal Diagnosis, Circulating Fetal Trophoblastic Cells, monogenic disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Non invasive prenatal diagnosisGenetic
15 pregnant women and their spouses Search for the familial mutation on isolated circulating fetal trophoblastic cells from maternal blood
| Study group | Role | What they receive |
|---|---|---|
| Expectant couple at risk of transmitting a monogenic disease. | Experimental | Expectant couple (pregnant woman from 9 weeks of gestation and spouse) at risk of transmitting a monogenic disease among the genes included in the trusight one expanded sequencing kit (Illumina). Receives: Genetic: Non invasive prenatal diagnosis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis).
Analysis of the concordance of the prenatal results obtained by our new NIPD (Non-Invasive Prenatal Diagnosis) approach and those blindly obtained during the gold-standard prenatal genetic test will be carried out for each pregnant woman participating in the study.
Measured: at 36 month
Secondary outcomes (1)
Non Invasive Prenatal Diagnostic test failure rate.
Count of the women enrolled for whom NIPD test will be inconclusive (because of insufficient circulating fetal cells isolation or allele drop out making accurate genotyping impossible).
Measured: at 36 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Nov 2018
- Study start19 Dec 2018
- Primary completion27 Aug 2019
- Study completion27 Aug 2019
Why it stopped: technical difficulties for patients inclusion
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Monogenic DiseasesStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe 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
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 18 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Collaborators
- ABM Industries
- Responsible party
- Sponsor
- Investigators
- Claire Guissart, PhD-PharmD, Principal investigator, molecular genetics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03743948
- Sponsor's protocol ID
- RECHMPL18_0281
- Acronym
- DIAFEXOME
- Status last verified
- Jun 2026
- First submitted
- 8 Nov 2018
- Last updated
- 12 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Cayrefourcq L, Vincent MC, Pierredon S, Moutou C, Imbert-Bouteille M, Haquet E, Puechberty J, Willems M, Liautard-Haag C, Molinari N, Zordan C, Dorian V, Rooryck-Thambo C, Goizet C, Chaussenot A, Rouzier C, Boureau-Wirth A, Monteil L, Calvas P, Miry C, Favre R, Petrov Y, Khau Van Kien P, Le Boette E, Fradin M, Alix-Panabieres C, Guissart C. Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule. Sci Rep. 2020 Jun 17;10(1):9861. doi: 10.1038/s41598-020-66923-9.
PubMed 32555262
Study at a glance
From the registry record, last updated by the sponsor on 12 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Monogenic Diseases
- ClinicalTrials.gov ID
- NCT03743948
- Acronym / sponsor ID
- DIAFEXOME / RECHMPL18_0281
- Conditions
- Monogenic Diseases
- Keywords
- Non Invasive Prenatal Diagnosis, Circulating Fetal Trophoblastic Cells, monogenic disease
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: technical difficulties for patients inclusion
- Enrolment
- 18 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Collaborators
- ABM Industries
- Study start
- 19 Dec 2018 (actual)
- Primary completion
- 27 Aug 2019 (actual)
- Study completion
- 27 Aug 2019 (actual)
- First posted
- 16 Nov 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 purprose of this study is to develop a single test based on circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation for a wide range of monogenic diseases.
Detailed description
Context:
Non Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA) is very promising for early diagnosis of monogenic diseases. Such an approach is a safer alternative to invasive methods of prenatal testing (amniocentesis or choriocentesis) which entails a significant risk of miscarriage (0.5%-1%). However, technical issues related to the characteristics of cff-DNA remain, and NIPD techniques require long process development which are specific for a gene and/or a particular mutation.
Objectives:
The objective of this study is to complete our offer of NIPD by developing an approach on isolated Circulating Trophoblastic Fetal Cells (CFTC) adapted to the analysis of the genes and mutations involved in current prenatal testing requests.
Methodology :
The blood of pregnant women from 9 weeks of gestation for which a prenatal testing is requested will be collected.
CFTC isolation using Circulating Tumor Cells (CTCs) enrichment systems will be followed by whole genome amplification coupled to mini-exome sequencing and bioinformatic filtering that will be specific to the prenatal testing indication.
The study will be carried out in 2 stages:
- analytical validation of the method by studying the data quality of the sequencing of targeted genes that are frequently subject to prenatal testing (see prenatal testing diseases list from "ABM DPN 2014" in Appendix 2).
- clinical evaluation of the method by checking the concordance between the results obtained by our new approach versus those obtained by standard procedure (amniocentesis or choriocentesis) for 15 pregnant women.
Expected results and perspectives:
The purpose of this study is to establish the proof of concept of a semi-universal NIPD method based on a simple maternal blood test that could be applied on most rare diseases requiring prenatal testing.
This NIPD approach would reduce the number of invasive procedures and thus eliminate the risk of miscarriage due to amniocentesis or choriocentesis. It would also enable national access to this NIPD test for a wide range of rare diseases.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Expectant couple at risk of transmitting a monogenic disease. | Experimental | Genetic: Non invasive prenatal diagnosisExpectant couple (pregnant woman from 9 weeks of gestation and spouse) at risk of transmitting a monogenic disease among the genes included in the trusight one expanded sequencing kit (Illumina). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- older than 18 years old
- pregnant woman between 9 and 34 weeks of gestation
- Couple undergoing prenatal diagnosis for a monogenic disease caused by point mutation(s)
- Written informed consent was obtained for the study
- Prenatal diagnosis has been programmed for the current pregnancy during which maternal blood is collected
Key exclusion criteria (3 listed)
- Couple Genomic DNA are unavailable
- Subjects at risk of transmitting the family disease, but not wishing to know their molecular status
- Individuals under guardianship by court order
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 |
|---|---|---|
| Non invasive prenatal diagnosis15 pregnant women and their spouses Search for the familial mutation on isolated circulating fetal trophoblastic cells from maternal blood | Genetic | Expectant couple at risk of transmitting a monogenic disease. |
Primary outcome
Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis).
Time frame: at 36 month
Analysis of the concordance of the prenatal results obtained by our new NIPD (Non-Invasive Prenatal Diagnosis) approach and those blindly obtained during the gold-standard prenatal genetic test will be carried out for each pregnant woman participating in the study.
1 secondary outcome
Non Invasive Prenatal Diagnostic test failure rate.
Time frame: at 36 month
Results and safety
The study was stopped early (reason given: technical difficulties for patients inclusion). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Jun 2026.
- Results publication: PubMed 32555262Cayrefourcq L, Vincent MC, Pierredon S, Moutou C, Imbert-Bouteille M, Haquet E, Puechberty J, Willems M, Liautard-Haag C, Molinari N, Zordan C, Dorian V, Rooryck-Thambo C, Goizet C, Chaussenot A, Rouzier C, Boureau-Wirth A, Monteil L, Calvas P, Miry C, Favre R, Petrov Y, Khau Van Kien P, Le Boette E, Fradin M, Alix-Panabieres C, Guissart C. Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule. Sci Rep. 2020 Jun 17;10(1):9861. doi: 10.1038/s41598-020-66923-9.
- Individual participant dataSharing planned: No
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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.
Claire Guissart, PhD-PharmD principal investigator
molecular genetics
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Non invasive prenatal diagnosis in people with Monogenic Diseases, run by University Hospital, Montpellier 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 6 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: stopped early, as of the sponsor's last update on 12 Jun 2026. 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 was stopped early (reason given: technical difficulties for patients inclusion). Results are not available in the source record.
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?
Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis). (time frame: at 36 month). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03743948, which also lists 1 linked publication.
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 12 Jun 2026.