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Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling

Primary Purpose

Hereditary Diseases

Status
Recruiting
Phase
Not Applicable
Locations
Denmark
Study Type
Interventional
Intervention
Whole genome amplification
Sponsored by
Aalborg University Hospital
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Hereditary Diseases focused on measuring cell-based non-invasive prenatal testing, Hereditary disorders

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)FemaleAccepts Healthy Volunteers

Inclusion Criteria:

  • Pregnancy following preimplantation genetic testing

Exclusion Criteria:

  • None

Sites / Locations

  • Fertility Unit, Aalborg University HospitalRecruiting

Arms of the Study

Arm 1

Arm 2

Arm Type

Experimental

No Intervention

Arm Label

WGA

No-WGA

Arm Description

DNA from the cells are amplified by whole genome amplification prior to genetic testing.

DNA from the cells are tested directly without whole genome amplification

Outcomes

Primary Outcome Measures

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.
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.
Specificity and sensitivity of single cell analysis.
Evaluation of the sensitivity and specificity of single cell analysis.

Secondary Outcome Measures

Full Information

First Posted
February 17, 2022
Last Updated
July 7, 2022
Sponsor
Aalborg University Hospital
Collaborators
ARCEDI Biotech, Aarhus University Hospital
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1. Study Identification

Unique Protocol Identification Number
NCT05453474
Brief Title
Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling
Official Title
Cell-based Non-invasive Prenatal Testing - Evaluation of Time of Blood Sampling and Whole Genome Amplification Prior to Genetic Testing
Study Type
Interventional

2. Study Status

Record Verification Date
July 2022
Overall Recruitment Status
Recruiting
Study Start Date
August 8, 2021 (Actual)
Primary Completion Date
May 29, 2023 (Anticipated)
Study Completion Date
January 1, 2024 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Aalborg University Hospital
Collaborators
ARCEDI Biotech, Aarhus University Hospital

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

Brief 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.
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 compared to chorionic villus sampling

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Hereditary Diseases
Keywords
cell-based non-invasive prenatal testing, Hereditary disorders

7. Study Design

Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
Randomized
Enrollment
50 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
WGA
Arm Type
Experimental
Arm Description
DNA from the cells are amplified by whole genome amplification prior to genetic testing.
Arm Title
No-WGA
Arm Type
No Intervention
Arm Description
DNA from the cells are tested directly without whole genome amplification
Intervention Type
Genetic
Intervention Name(s)
Whole genome amplification
Intervention Description
DNA is amplified by whole genome amplification
Primary Outcome Measure Information:
Title
Evaluation of the fetal cell yield when blood sampling is performed at Gestational weeks 7-8 compared to gestational weeks 11-14.
Description
Evaluation of whether cbNIPT be performed in gestational week 7-8.
Time Frame
Within 2 years
Title
Percentage of test with an informative test result from genetic testing following whole genome amplification or direct testing without whole genome amplification.
Description
Analysis of whether genetic testing on whole genome amplified material is inferior to genetic testing directly on DNA purified from single cells.
Time Frame
Within 2 years
Title
Specificity and sensitivity of single cell analysis.
Description
Evaluation of the sensitivity and specificity of single cell analysis.
Time Frame
Within 2 years

10. Eligibility

Sex
Female
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria: Pregnancy following preimplantation genetic testing Exclusion Criteria: None
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Christian L.F. Toft, ph.d.
Phone
+4526245209
Email
christian.toft@rn.dk
First Name & Middle Initial & Last Name or Official Title & Degree
Hans Jakob Ingerslev, Professor
Phone
+4550939393
Email
jakob.ingerslev@rn.dk
Facility Information:
Facility Name
Fertility Unit, Aalborg University Hospital
City
Aalborg
ZIP/Postal Code
9000
Country
Denmark
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Hans Jakob Ingerslev, Professor, M.D.
Phone
+45 50939393
Email
jakob.ingerslev@rn.dk

12. IPD Sharing Statement

Plan to Share IPD
No
Citations:
PubMed Identifier
33677749
Citation
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.
Results Reference
result
Links:
URL
https://arcedi.com/
Description
ARCEDI Biotech homepage

Learn more about this trial

Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling

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