Preimplantation DiagnosisNCT02502214
Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders
An observational study of Preimplantation Diagnosis, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
Preimplantation Genetic Diagnosis (PGD) for monogenic diseases is usually performed by multiplex PCR combining polymorphic microsatellites familial analysis and, where possible, couple-specific mutation detection. Single-cell multiplex PCR developments are costly and time-consuming. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Preimplantation Diagnosis
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- 12 Nov 2015to Sep 2017
- 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
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: The Preimplantation Diagnosis (DPI) may be offered to couples at risk of transmitting a serious genetic disease to their offspring
Who may be able to join
- Age> or = 18 years
- Couples at risk of transmitting cystic fibrosis
- asking for a PGD in Strasbourg
- DNA samples available at the laboratory for:
- The couple
- A related with CFTR status known
- Having signed an informed consent
Who cannot join
- Inability to give informed consent (understanding difficulties...)
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Laboratoire de Diagnostic préimplantatoire Site du CMCO
Strasbourg, 67091
Céline MOUTOU, MD, 33 3 69 55 34 21, celine.moutou@chru-strasbourg.fr
Emmanuelle KIEFFER, PhD, 33 3 69 55 34 21, emmanuelle.kieffer@chru-strasbourg.fr
About this study
Official title: Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders by Using Nextgeneration Sequencing
Preimplantation Genetic Diagnosis (PGD) for monogenic diseases is usually performed by multiplex PCR combining polymorphic microsatellites familial analysis and, where possible, couple-specific mutation detection. Single-cell multiplex PCR developments are costly and time-consuming. We propose to test and clinically validate a targeted next-generation sequencing approach for the PGD for cystic fibrosis. This technique would allow a PGD for probably almost every couple asking for it in our centre, without a previous couple-specific development (but only a preliminary familial analysis). It will be based on haplotyping using a large number of SNPs and mutation detection. A clinical validation will be performed by reanalysing non-transferable embryos obtained after PGD for cystic fibrosis, with couple's informed consent. Concordance of the results between PGD and reanalysis by NGS will be achieved and if validated, this technique may be applied to future PGD for cystic fibrosis in our centre. The same technique may then be applied for other PGD indications for which a set-up is often needed.
- Conditions
- Preimplantation Diagnosis
- Keywords
- Preimplantation Genetic Diagnosis, PGD, Next-Generation Sequencing, NGS, Single-Gene disorders, Cystic Fibrosis, CFTR, Single-cell analysis, PCR, SNP, Whole Genome Amplification
- Medical subject headings
- Cystic Fibrosis
What is being measured
The primary outcome is the main question the study is designed to answer.
Monogenic diseases
Measured: for the duration of hospital stay, up to 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jul 2015 (estimated)
- Study start12 Nov 2015
- Primary completionSep 2017 (estimated)
- Study completionSep 2017 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Preimplantation DiagnosisStudies 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
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 30 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
- NCT02502214
- Sponsor's protocol ID
- 6195
- Status last verified
- May 2017
- First submitted
- 16 Jul 2015
- Last updated
- 19 May 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 May 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders by Using Nextgeneration Sequencing
- ClinicalTrials.gov ID
- NCT02502214
- Acronym / sponsor ID
- 6195
- Conditions
- Preimplantation Diagnosis
- Keywords
- Preimplantation Genetic Diagnosis, PGD, Next-Generation Sequencing, NGS, Single-Gene disorders, Cystic Fibrosis, CFTR, Single-cell analysis
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 12 Nov 2015 (actual)
- Primary completion
- Sep 2017 (estimated)
- Study completion
- Sep 2017 (estimated)
- First posted
- 20 Jul 2015 (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.
Preimplantation Genetic Diagnosis (PGD) for monogenic diseases is usually performed by multiplex PCR combining polymorphic microsatellites familial analysis and, where possible, couple-specific mutation detection. Single-cell multiplex PCR developments are costly and time-consuming. We propose to test and clinically validate a targeted next-generation sequencing approach for the PGD for cystic fibrosis. This technique would allow a PGD for probably almost every couple asking for it in our centre, without a previous couple-specific development (but only a preliminary familial analysis). It will be based on haplotyping using a large number of SNPs and mutation detection. A clinical validation will be performed by reanalysing non-transferable embryos obtained after PGD for cystic fibrosis, with couple's informed consent. Concordance of the results between PGD and reanalysis by NGS will be achieved and if validated, this technique may be applied to future PGD for cystic fibrosis in our centre. The same technique may then be applied for other PGD indications for which a set-up is often needed.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The Preimplantation Diagnosis (DPI) may be offered to couples at risk of transmitting a serious genetic disease to their offspring
Key inclusion criteria (7 listed)
- Age> or = 18 years
- Couples at risk of transmitting cystic fibrosis
- asking for a PGD in Strasbourg
- DNA samples available at the laboratory for:
Key exclusion criteria (1 listed)
- Inability to give informed consent (understanding difficulties...)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Monogenic diseases
Time frame: for the duration of hospital stay, up to 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 May 2017.
- Individual participant dataSharing planned: No
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Outcomes of Couples After Failed PGD Management: A Single-Center Study at the Paris PGD Center (Antoine Béclère - Necker)
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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?
An observational study of Preimplantation Diagnosis, 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 7 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 19 May 2017. 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 Céline Moutou, MD (03.69.55.34.21, celine.moutou@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Monogenic diseases (time frame: for the duration of hospital stay, up to 1 year). 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 19 May 2017.