Non Invasive Prenatal DiagnosisDIACCIMEXNCT03087526
NIPD on CFTC for Triplet Repeat Diseases
A study testing Non invasive prenatal diagnosis in people with Non Invasive Prenatal Diagnosis, run by University Hospital, Montpellier at 8 sites in France.
Trial summary
The purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation in families at risk of having one of the following triplet repeat diseases… Read more about this study
- Who is it for?
- Ages 18 months and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Non Invasive Prenatal Diagnosis
- What is being tested?
- Non invasive prenatal diagnosis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 60 participants
- Where
- 8 sitesFrance
- Study dates
- 12 Jun 2017to 1 Apr 2020
- 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 months and older
- Women only
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- older than 18 years old
- pregnant woman between 9 and 34 weeks of gestation
- Couple at risk (based on family history or echographic findings) for one of the following diseases: Huntington's disease, Steinert's myotonic dystrophy, fragile X and spinocerebellar ataxias 1, 2 or 3
- 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 one of the following diseases (Huntington's disease, Steinert's myotonic dystrophy, fragile X and spinocerebellar ataxias 1, 2 or 3 ) 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
8 sites in 1 country.
8 sites in 1 country
France8 sites
CHU Bordeaux
Bordeaux, 33076
CHU Montpellier
Montpellier, 34295
CHU Nice
Nice, 06202
CHU Nîmes
Nîmes, 30029
CHU Rennes
Rennes, 35203
CH Saint Brieuc
Saint-Brieuc, 22027
CHU Strasbourg
Schiltigheim, 67303
CHU Toulouse
Toulouse, 31059
About this study
Official title: Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases
The purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation in families at risk of having one of the following triplet repeat diseases: Huntington's disease, Steinert Myotonic dystrophy, Fragile X syndrome, spinocerebellar ataxia (SCA) 1, 2 and 3.
Read the detailed description
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 do not allow the search of all the mutations, in particular triplet expansion mutations which concern rare and incurable diseases (Huntington's disease, Steinert Myotonic dystrophy, Fragile X syndrome, SCA1, 2, 3). Indeed, the strong fragmentation and the short size of cff-DNA (143 bp) do not allow direct detection of these mutations. However, Prenatal Diagnosis (PND) requests for this group of pathologies represent the second most frequent PND indication at the national level after cystic fibrosis (ABM 2013). An alternative approach is to perform analysis on circulating fetal trophoblastic cells (CFTC) from maternal blood. Several methods have been used to isolate CFTCs from maternal blood. However, to date, no test is reliable enough for a routine application to replace invasive protocols. Recently, new enrichment systems have been optimized for circulating tumor cells (CTCs) as a liquid biopsy of cancer. Some of these new technologies can be easily applied to the isolation and characterization of CFTCs. The objective of this study is to complete our NIPD services by developing an approach on CFTC adapted to the analysis of triplet repeat diseases, which cannot be performed on cff-DNA.
It is a multicenter, prospective study for performance evaluation of a diagnostic method. The subjects included will be pregnant women between 9 and 34 weeks of gestation and their partner (future fathers). Pregnant woman and future father genotypes (sick or healthy) are known for one of the following diseases: Huntington's disease, Steinert's myotonic dystrophy, fragile X and spinocerebellar ataxias types 1, 2 or 3. The main objective is achieved by the agreement between gold standard (PND by amniocentesis or choriocentesis) and NIPD results for each pregnant woman participating in the study (the absence or presence of the mutated allele).
The couple inclusion will take place in one of the participating medical genetic centers during genetic counseling consultation for a pregnancy at risk for one of the pathologies mentioned above.
During this visit, the pregnant woman's blood sample (blood sample taken on 3 x 10 ml BCT and 5 ml on EDTA) and the future father (5 ml on EDTA) will be carried out. The duration of inclusion is the time of the visit. Blood collection of pregnant women on cell-free DNA "Blood Collection Tubes" (BCT) to screen CFTCs will be addressed to the Human Rare Circulating Cells Laboratory (LCCRH). The molecular analysis of the CFTC isolated by the LCCRH as well as the genomic DNA extraction and analysis (from the 5 ml of blood on EDTA) of the couple will be carried out by the Laboratory of Molecular Genetics (LGM) located in the same Building (IURC - Montpellier University Hospital).
The analysis performed on a simple maternal blood test will allow to determine whether the future child is affected or not by the inherited disease. With this new NIPD approach, there could be a 50% decrease in the use of the invasive method for PND. This analysis can be offered to women carrying foetuses at risk for triplet repeat diseases. Finally, this approach can be applied to any monogenic diseases by CFTCs isolation automation from maternal blood.
- Conditions
- Non Invasive Prenatal Diagnosis
- Being tested
- Non invasive prenatal diagnosis
- Keywords
- Non Invasive Prenatal Diagnosis (NIPD), Circulating Fetal Trophoblastic Cells (CFTC), Huntington's Disease, Myotonic Dystrophy Type 1, Fragile X syndrome, Spinocerebellar Ataxia type 1, Spinocerebellar Ataxia type 2, Spinocerebellar Ataxia type 3
- Medical subject headings
- Huntington Disease, Myotonic Dystrophy, Fragile X Syndrome, Spinocerebellar Ataxias, Machado-Joseph Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Non invasive prenatal diagnosisGenetic
Search for the familial mutation on isolated circulating fetal trophoblastic cells from maternal blood
| Study group | Role | What they receive |
|---|---|---|
| Couple at risk of transmitting a triplet-repeat disease | Experimental | Expectant couple (pregnant woman between 9 and 34 weeks of gestation and her spouse) at risk of transmitting a triplet-repeat related genetic disease among Huntington disease, Myotonic Dystrophy type 1, Fragile X syndrome, Spinocerebellar Ataxia type 1, Spinocerebellar Ataxia type 2, Spinocerebellar Ataxia type 3 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: 30 months
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 haplotyping impossible).
Measured: 30 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2017
- Study start12 Jun 2017
- Primary completion1 Apr 2020
- Study completion1 Apr 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Non Invasive Prenatal DiagnosisStudies of the same condition, open and under way.
- 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 (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Marie Claire VINCENT, PhD-PharmaD, Principal investigator, University Hospital, Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03087526
- Sponsor's protocol ID
- RECHMPL17_0021
- Acronym
- DIACCIMEX
- Status last verified
- Sep 2025
- First submitted
- 23 Feb 2017
- Last updated
- 3 Oct 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- 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 32555262Liautard-Haag C, Durif G, VanGoethem C, Baux D, Louis A, Cayrefourcq L, Lamairia M, Willems M, Zordan C, Dorian V, Rooryck C, Goizet C, Chaussenot A, Monteil L, Calvas P, Miry C, Favre R, Le Boette E, Fradin M, Roux AF, Cossee M, Koenig M, Alix-Panabiere C, Guissart C, Vincent MC. Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach. Sci Rep. 2022 Jul 6;12(1):11423. doi: 10.1038/s41598-022-15307-2.
PubMed 35794169
Study at a glance
From the registry record, last updated by the sponsor on 3 Oct 2025. 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 Triplet Repeat Diseases
- ClinicalTrials.gov ID
- NCT03087526
- Acronym / sponsor ID
- DIACCIMEX / RECHMPL17_0021
- Conditions
- Non Invasive Prenatal Diagnosis
- Keywords
- Non Invasive Prenatal Diagnosis (NIPD), Circulating Fetal Trophoblastic Cells (CFTC), Huntington's Disease, Myotonic Dystrophy Type 1, Fragile X syndrome, Spinocerebellar Ataxia type 1, Spinocerebellar Ataxia type 2, Spinocerebellar Ataxia type 3
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 12 Jun 2017 (actual)
- Primary completion
- 1 Apr 2020 (actual)
- Study completion
- 1 Apr 2020 (actual)
- First posted
- 22 Mar 2017 (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 purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation in families at risk of having one of the following triplet repeat diseases: Huntington's disease, Steinert Myotonic dystrophy, Fragile X syndrome, spinocerebellar ataxia (SCA) 1, 2 and 3.
Detailed description
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 do not allow the search of all the mutations, in particular triplet expansion mutations which concern rare and incurable diseases (Huntington's disease, Steinert Myotonic dystrophy, Fragile X syndrome, SCA1, 2, 3). Indeed, the strong fragmentation and the short size of cff-DNA (143 bp) do not allow direct detection of these mutations. However, Prenatal Diagnosis (PND) requests for this group of pathologies represent the second most frequent PND indication at the national level after cystic fibrosis (ABM 2013). An alternative approach is to perform analysis on circulating fetal trophoblastic cells (CFTC) from maternal blood. Several methods have been used to isolate CFTCs from maternal blood. However, to date, no test is reliable enough for a routine application to replace invasive protocols. Recently, new enrichment systems have been optimized for circulating tumor cells (CTCs) as a liquid biopsy of cancer. Some of these new technologies can be easily applied to the isolation and characterization of CFTCs. The objective of this study is to complete our NIPD services by developing an approach on CFTC adapted to the analysis of triplet repeat diseases, which cannot be performed on cff-DNA.
It is a multicenter, prospective study for performance evaluation of a diagnostic method. The subjects included will be pregnant women between 9 and 34 weeks of gestation and their partner (future fathers). Pregnant woman and future father genotypes (sick or healthy) are known for one of the following diseases: Huntington's disease, Steinert's myotonic dystrophy, fragile X and spinocerebellar ataxias types 1, 2 or 3. The main objective is achieved by the agreement between gold standard (PND by amniocentesis or choriocentesis) and NIPD results for each pregnant woman participating in the study (the absence or presence of the mutated allele).
The couple inclusion will take place in one of the participating medical genetic centers during genetic counseling consultation for a pregnancy at risk for one of the pathologies mentioned above.
During this visit, the pregnant woman's blood sample (blood sample taken on 3 x 10 ml BCT and 5 ml on EDTA) and the future father (5 ml on EDTA) will be carried out. The duration of inclusion is the time of the visit. Blood collection of pregnant women on cell-free DNA "Blood Collection Tubes" (BCT) to screen CFTCs will be addressed to the Human Rare Circulating Cells Laboratory (LCCRH). The molecular analysis of the CFTC isolated by the LCCRH as well as the genomic DNA extraction and analysis (from the 5 ml of blood on EDTA) of the couple will be carried out by the Laboratory of Molecular Genetics (LGM) located in the same Building (IURC - Montpellier University Hospital).
The analysis performed on a simple maternal blood test will allow to determine whether the future child is affected or not by the inherited disease. With this new NIPD approach, there could be a 50% decrease in the use of the invasive method for PND. This analysis can be offered to women carrying foetuses at risk for triplet repeat diseases. Finally, this approach can be applied to any monogenic diseases by CFTCs isolation automation from maternal blood.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Couple at risk of transmitting a triplet-repeat disease | Experimental | Genetic: Non invasive prenatal diagnosisExpectant couple (pregnant woman between 9 and 34 weeks of gestation and her spouse) at risk of transmitting a triplet-repeat related genetic disease among Huntington disease, Myotonic Dystrophy type 1, Fragile X syndrome, Spinocerebellar Ataxia type 1, Spinocerebellar Ataxia type 2, Spinocerebellar Ataxia type 3 |
Who may qualify
- Ages
- 18 months and older
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- older than 18 years old
- pregnant woman between 9 and 34 weeks of gestation
- Couple at risk (based on family history or echographic findings) for one of the following diseases: Huntington's disease, Steinert's myotonic dystrophy, fragile X and spinocerebellar ataxias 1, 2 or 3
- 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 diagnosisSearch for the familial mutation on isolated circulating fetal trophoblastic cells from maternal blood | Genetic | Couple at risk of transmitting a triplet-repeat disease |
Primary outcome
Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis).
Time frame: 30 months
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: 30 months
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 3 Oct 2025.
- 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.
- Results publication: PubMed 35794169Liautard-Haag C, Durif G, VanGoethem C, Baux D, Louis A, Cayrefourcq L, Lamairia M, Willems M, Zordan C, Dorian V, Rooryck C, Goizet C, Chaussenot A, Monteil L, Calvas P, Miry C, Favre R, Le Boette E, Fradin M, Roux AF, Cossee M, Koenig M, Alix-Panabiere C, Guissart C, Vincent MC. Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach. Sci Rep. 2022 Jul 6;12(1):11423. doi: 10.1038/s41598-022-15307-2.
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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.
Marie Claire VINCENT, PhD-PharmaD principal investigator
University Hospital, Montpellier
8 sites 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 Non Invasive Prenatal Diagnosis, run by University Hospital, Montpellier at 8 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 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: finished, as of the sponsor's last update on 3 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 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?
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?
Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis). (time frame: 30 months). 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 NCT03087526, which also lists 2 linked publications.
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 3 Oct 2025.