Hereditary DiseasesNCT05453474
Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling
A study testing Whole genome amplification in people with Hereditary Diseases, run by Aalborg University Hospital at 1 site in Denmark.
Trial summary
The study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary disorders. Read more about this study
- Who is it for?
- Any age, women onlyHealthy volunteers can take part
- Conditions the study is for
- Hereditary Diseases
- What is being tested?
- Whole genome amplification
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 48 participants
- Where
- 1 siteDenmark
- Study dates
- 8 Aug 2021to 27 Jun 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 Any age
- Women only
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Pregnancy following preimplantation genetic testing
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Cell-based Non-invasive Prenatal Testing - Evaluation of Time of Blood Sampling and Whole Genome Amplification Prior to Genetic Testing
The study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary disorders.
Read the detailed description
The study has three main objects:
- to evaluate the optimal time of blood sampling (gestational week 7-8 or 11-14)
- to evaluate whole genome amplification prior to genetic analysis og isolated fetal cells (only relevant for monogenic disorders)
- evaluating specificity and sensitivity
- Conditions
- Hereditary Diseases
- Being tested
- Whole genome amplification
- Keywords
- cell-based non-invasive prenatal testing, Hereditary disorders
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole genome amplificationGenetic
DNA is amplified by whole genome amplification
| Study group | Role | What they receive |
|---|---|---|
| WGA | Experimental | DNA from the cells are amplified by whole genome amplification prior to genetic testing. Receives: Genetic: Whole genome amplification |
| No-WGA | No intervention | DNA from the cells are tested directly without whole genome amplification |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluation of the fetal cell yield when blood sampling is performed at Gestational weeks 7-8 compared to gestational weeks 11-14.
Evaluation of whether cbNIPT be performed in gestational week 7-8.
Measured: Within 2 years
Percentage of test with an informative test result from genetic testing following whole genome amplification or direct testing without whole genome amplification.
Analysis of whether genetic testing on whole genome amplified material is inferior to genetic testing directly on DNA purified from single cells.
Measured: Within 2 years (since data analysis is carried out later than sample collection)
Specificity and sensitivity of single cell analysis.
Evaluation of the sensitivity and specificity of single cell analysis.
Measured: Within 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jul 2022
- Study start8 Aug 2021
- Primary completion27 Jun 2023
- Study completion27 Jun 2023
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 Hereditary DiseasesStudies 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
- Non-randomised
- Intervention model
- Parallel groups
- Model description
- All patients had either one or two blood samples collected. Each blood sampled had either all cells lyzed or cells were split between lysis and whole genome amplification. Hence, the study is considered to have to seperate analysis each with two arms.
- Masking
- None (open label)
- Enrolment
- 48 participants (actual)
Sponsor and investigators
- Lead sponsor
- Aalborg University Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Arcedi Biotech, Aarhus University Hospital
- Responsible party
- Principal investigator, Christian Liebst Frisk Toft, Aalborg University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05453474
- Sponsor's protocol ID
- N-20180001 (cbNIPT v2)
- Status last verified
- Jan 2024
- First submitted
- 17 Feb 2022
- Last updated
- 31 Jan 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Toft CLF, Ingerslev HJ, Kesmodel US, Hatt L, Singh R, Ravn K, Nicolaisen BH, Christensen IB, Kolvraa M, Jeppesen LD, Schelde P, Vogel I, Uldbjerg N, Farlie R, Sommer S, Ostergard MLV, Jensen AN, Mogensen H, Kjartansdottir KR, Degn B, Okkels H, Ernst A, Pedersen IS. Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing. J Assist Reprod Genet. 2021 Aug;38(8):1959-1970. doi: 10.1007/s10815-021-02104-5. Epub 2021 Mar 7.
PubMed 33677749
Study at a glance
From the registry record, last updated by the sponsor on 31 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cell-based Non-invasive Prenatal Testing - Evaluation of Time of Blood Sampling and Whole Genome Amplification Prior to Genetic Testing
- ClinicalTrials.gov ID
- NCT05453474
- Acronym / sponsor ID
- N-20180001 (cbNIPT v2)
- Conditions
- Hereditary Diseases
- Keywords
- cell-based non-invasive prenatal testing, Hereditary disorders
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 48 participants (actual)
- Lead sponsor
- Aalborg University HospitalUniversity, hospital or other
- Collaborators
- Arcedi Biotech, Aarhus University Hospital
- Study start
- 8 Aug 2021 (actual)
- Primary completion
- 27 Jun 2023 (actual)
- Study completion
- 27 Jun 2023 (actual)
- First posted
- 12 Jul 2022 (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 study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary disorders.
Detailed description
The study has three main objects:
- to evaluate the optimal time of blood sampling (gestational week 7-8 or 11-14)
- to evaluate whole genome amplification prior to genetic analysis og isolated fetal cells (only relevant for monogenic disorders)
- evaluating specificity and sensitivity
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- All patients had either one or two blood samples collected. Each blood sampled had either all cells lyzed or cells were split between lysis and whole genome amplification. Hence, the study is considered to have to seperate analysis each with two arms.
| Arm | Type | Receives |
|---|---|---|
| WGA | Experimental | Genetic: Whole genome amplificationDNA from the cells are amplified by whole genome amplification prior to genetic testing. |
| No-WGA | No intervention | –DNA from the cells are tested directly without whole genome amplification |
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Pregnancy following preimplantation genetic testing
Key exclusion criteria (1 listed)
- None
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 |
|---|---|---|
| Whole genome amplificationDNA is amplified by whole genome amplification | Genetic | WGA |
Primary outcome
Evaluation of the fetal cell yield when blood sampling is performed at Gestational weeks 7-8 compared to gestational weeks 11-14.
Time frame: Within 2 years
Evaluation of whether cbNIPT be performed in gestational week 7-8.
Percentage of test with an informative test result from genetic testing following whole genome amplification or direct testing without whole genome amplification.
Time frame: Within 2 years (since data analysis is carried out later than sample collection)
Analysis of whether genetic testing on whole genome amplified material is inferior to genetic testing directly on DNA purified from single cells.
Specificity and sensitivity of single cell analysis.
Time frame: Within 2 years
Evaluation of the sensitivity and specificity of single cell analysis.
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 31 Jan 2024.
- Results publication: PubMed 33677749Toft CLF, Ingerslev HJ, Kesmodel US, Hatt L, Singh R, Ravn K, Nicolaisen BH, Christensen IB, Kolvraa M, Jeppesen LD, Schelde P, Vogel I, Uldbjerg N, Farlie R, Sommer S, Ostergard MLV, Jensen AN, Mogensen H, Kjartansdottir KR, Degn B, Okkels H, Ernst A, Pedersen IS. Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing. J Assist Reprod Genet. 2021 Aug;38(8):1959-1970. doi: 10.1007/s10815-021-02104-5. Epub 2021 Mar 7.
- ARCEDI Biotech homepageLink provided by the sponsor.
- 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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Whole genome amplification in people with Hereditary Diseases, run by Aalborg University Hospital at 1 site in Denmark.
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: finished, as of the sponsor's last update on 31 Jan 2024. 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 Denmark. 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?
Evaluation of the fetal cell yield when blood sampling is performed at Gestational weeks 7-8 compared to gestational weeks 11-14. (time frame: Within 2 years). The study lists 3 primary outcomes in all. 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 NCT05453474, 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 31 Jan 2024.