Noninvasive Mucinous Cystadenocarcinoma of OvaryNCT02130648
Non Ivasive Prenatal Diagnosis (NIPD) of Cystic Fibrosis
An observational study of Noninvasive Mucinous Cystadenocarcinoma of Ovary, run by University Hospital, Montpellier at 1 site in France.
Trial summary
The purprose of this study is to develop and validate an analytical and clinical NIPD test for cystic fibrosis from maternal blood by analysis circulating free fetal DNA (cff-DNA), searching for the paternal mutation in families with CFTR compound heterozygosity Read more about this study
- Who is it for?
- Ages 18 years and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Noninvasive Mucinous Cystadenocarcinoma of Ovary
- What is being tested?
- A sampling of blood
- How many people
- 50 participants
- Where
- 1 siteFrance
- Study dates
- Oct 2012to Apr 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 18 years and older
- Women only
- Healthy volunteers accepted
- Adult, Older adult
Study population: Pregnant women with a risk of cystic fibrosis for the foetus
Who may be able to join
- pregnant women with a risk of cystic fibrosis for the foetus
Who cannot join
- both parents have the same CF mutant allele
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Centre hospitalier Universitaire de Montpellier
Montpellier, 34295
Anne VERCHERE, 33467330812, a-verchere@chu-montpellier.fr
Sandrine BARBAS, 33467330813, s-barbas@chu-montpellier.fr
About this study
Official title: Non-invasive Prenatal Diagnosis (NIPD) of Cystic Fibrosis by Quantitative Real Time MEMO-PCR
The purprose of this study is to develop and validate an analytical and clinical NIPD test for cystic fibrosis from maternal blood by analysis circulating free fetal DNA (cff-DNA), searching for the paternal mutation in families with CFTR compound heterozygosity
Read the detailed description
The recent development of techniques to analyze foetal DNA circulating in blood maternal opened new perspectives for prenatal diagnosis (PD). Non-invasive PND (NIPD) is now the method of choice for the determination of fetal sex (genetic disorders linked to X chromosome) and rhesus genotype. NIPD begins to find applications in the diagnosis of monogenic diseases for mutations of paternal transmission. However a number of technical challenges still hamper diagnostic applications in routine, and have to be resolved taking into account the aspects of cost, reliability (false negative ..) and complexity of equipment and bioinformatics studies.
The investigators propose to develop and validate an analytical and clinical NIPD test for cystic fibrosis from maternal blood by analysis circulating free fetal DNA (cff-DNA), searching for the paternal mutation in families with CFTR compound heterozygosity.
The test method based on MEMO associated with a platform for real-time PCR can be used for the detection of trace DNA mutant. This technique is commonly used for mutations in mosaic (less than 1%) of genes common cancers. Positive detection of the paternal mutation is always checked by a second mini-sequencing technique.
Prior to any specific CFTR test, the DNA profile of each sample will be determined using a commercial kit of Mini STR adapted to study casework. A tri-allelic profile for markers will prove the presence of fetal DNA in the studied specimen and will thus limit false negatives associated with the lack or insufficient amounts of cff-DNA.
The validation step of the investigators analytical methods will be made on chimeric DNA control samples artificially created. Then the test will be clinicaly validated by a retrospective study of maternal serum from pregnant women, who have been the subject of PND or PGD (preimplantation genetic diagnosis) of CF request in the laboratory during the study period (2012 to 2013).
The investigators structure is a reference center for PGD, PND and NBS (newborn screening) of cystic fibrosis. The samples will be collected in accordance with current regulations.The pre-analytical sample treatment will be done in real time and plasma will be stored for the second step of the study.
The validation of the proposed tests will permit :
- To have an external quality control (QC) confirming the presence of a minor DNA in the studied sample. This QC could be used for all NIPD tests based on the search of a genomic sequence absent from the maternal genome
- To have a highly sensitive method to detect trace mutant DNA which can be develop for new NIPD tests in other monogenic diseases by detecting mutations of the same nature.
The investigators project, limited to the search for the paternal allele in the family with CFTR compound heterozygosity, is a first step in the implementation of a prenatal diagnosis approach of cystic fibrosis that the investigators aim to develop in order to to reduce invasive procedures.
- Being tested
- A sampling of blood
- Keywords
- Non-invasive Prenatal Diagnosis (NIPD), Cystic Fibrosis, Quantitative real time MEMO-PCR
- Medical subject headings
- Cystic Fibrosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
A sampling of bloodOther
A sampling of blood de 14 ml
| Study group | Role | What they receive |
|---|---|---|
| Prenatal diagnosis | Prenatal diagnosis witch A sampling of blood de 14 ml Receives: Other: A sampling of blood |
What is being measured
The primary outcome is the main question the study is designed to answer.
Analysis circulating free fetal DNA
Analytical and clinical NIPD test for cystic fibrosis from maternal blood by analysis circulating free fetal DNA (cff-DNA), searching for the paternal mutation in families with CFTR compound heterozygosity.
The test method based on MEMO associated with a platform for real-time PCR can be used for the detection of trace DNA mutant.
Measured: 10th week with regard to the term of the pregnancy
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 May 2014 (estimated)
- Study startOct 2012
- Primary completionJul 2015 (estimated)
- Study completionApr 2016 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Noninvasive Mucinous Cystadenocarcinoma of OvaryStudies 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
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Mireille CLAUSTRES, Principal investigator, Laboratoire de Genetique Moleculaire Institut de Recherche Clinique INSERM 827 640, avenue du Doyen giraud 34295 MONTPELLIER cedex 5
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02130648
- Sponsor's protocol ID
- UF9039
- Status last verified
- Apr 2014
- First submitted
- 22 Apr 2014
- Last updated
- 31 Dec 2014
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 31 Dec 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Non-invasive Prenatal Diagnosis (NIPD) of Cystic Fibrosis by Quantitative Real Time MEMO-PCR
- ClinicalTrials.gov ID
- NCT02130648
- Acronym / sponsor ID
- UF9039
- Keywords
- Non-invasive Prenatal Diagnosis (NIPD), Cystic Fibrosis, Quantitative real time MEMO-PCR
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- Oct 2012
- Primary completion
- Jul 2015 (estimated)
- Study completion
- Apr 2016 (estimated)
- First posted
- 5 May 2014 (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 purprose of this study is to develop and validate an analytical and clinical NIPD test for cystic fibrosis from maternal blood by analysis circulating free fetal DNA (cff-DNA), searching for the paternal mutation in families with CFTR compound heterozygosity
Detailed description
The recent development of techniques to analyze foetal DNA circulating in blood maternal opened new perspectives for prenatal diagnosis (PD). Non-invasive PND (NIPD) is now the method of choice for the determination of fetal sex (genetic disorders linked to X chromosome) and rhesus genotype. NIPD begins to find applications in the diagnosis of monogenic diseases for mutations of paternal transmission. However a number of technical challenges still hamper diagnostic applications in routine, and have to be resolved taking into account the aspects of cost, reliability (false negative ..) and complexity of equipment and bioinformatics studies.
The investigators propose to develop and validate an analytical and clinical NIPD test for cystic fibrosis from maternal blood by analysis circulating free fetal DNA (cff-DNA), searching for the paternal mutation in families with CFTR compound heterozygosity.
The test method based on MEMO associated with a platform for real-time PCR can be used for the detection of trace DNA mutant. This technique is commonly used for mutations in mosaic (less than 1%) of genes common cancers. Positive detection of the paternal mutation is always checked by a second mini-sequencing technique.
Prior to any specific CFTR test, the DNA profile of each sample will be determined using a commercial kit of Mini STR adapted to study casework. A tri-allelic profile for markers will prove the presence of fetal DNA in the studied specimen and will thus limit false negatives associated with the lack or insufficient amounts of cff-DNA.
The validation step of the investigators analytical methods will be made on chimeric DNA control samples artificially created. Then the test will be clinicaly validated by a retrospective study of maternal serum from pregnant women, who have been the subject of PND or PGD (preimplantation genetic diagnosis) of CF request in the laboratory during the study period (2012 to 2013).
The investigators structure is a reference center for PGD, PND and NBS (newborn screening) of cystic fibrosis. The samples will be collected in accordance with current regulations.The pre-analytical sample treatment will be done in real time and plasma will be stored for the second step of the study.
The validation of the proposed tests will permit :
- To have an external quality control (QC) confirming the presence of a minor DNA in the studied sample. This QC could be used for all NIPD tests based on the search of a genomic sequence absent from the maternal genome
- To have a highly sensitive method to detect trace mutant DNA which can be develop for new NIPD tests in other monogenic diseases by detecting mutations of the same nature.
The investigators project, limited to the search for the paternal allele in the family with CFTR compound heterozygosity, is a first step in the implementation of a prenatal diagnosis approach of cystic fibrosis that the investigators aim to develop in order to to reduce invasive procedures.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Prenatal diagnosis | – | Other: A sampling of bloodPrenatal diagnosis witch A sampling of blood de 14 ml |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Pregnant women with a risk of cystic fibrosis for the foetus
Key inclusion criteria (1 listed)
- pregnant women with a risk of cystic fibrosis for the foetus
Key exclusion criteria (1 listed)
- both parents have the same CF mutant allele
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 |
|---|---|---|
| A sampling of bloodA sampling of blood de 14 ml | Other | Prenatal diagnosis |
Primary outcome
Analysis circulating free fetal DNA
Time frame: 10th week with regard to the term of the pregnancy
Analytical and clinical NIPD test for cystic fibrosis from maternal blood by analysis circulating free fetal DNA (cff-DNA), searching for the paternal mutation in families with CFTR compound heterozygosity. The test method based on MEMO associated with a platform for real-time PCR can be used for the detection of trace DNA mutant.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Dec 2014.
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.
Mireille CLAUSTRES principal investigator
Laboratoire de Genetique Moleculaire Institut de Recherche Clinique INSERM 827 640, avenue du Doyen giraud 34295 MONTPELLIER cedex 5
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 Noninvasive Mucinous Cystadenocarcinoma of Ovary, 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 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: status not confirmed, as of the sponsor's last update on 31 Dec 2014. 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 Anne VECHERE (33467330812, a-verchere@chu-montpellier.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Analysis circulating free fetal DNA (time frame: 10th week with regard to the term of the pregnancy). 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 31 Dec 2014.