* To demonstrate the basic functionalities (robustness, reproducibility and overall performance characteristics) of the NGS-based haplotyping method.Secondary objective* To demonstrate concordance between embryonic biopsy genetic analysis results…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Research phase
Percentage invalid results
for monogenic disorders in blastomere cells and in trophectoderm cells
for chromosomal disorders in in blastomere cells and in trophectoderm cells
for chromosomalaneuploidy in blastomere cells and in trophectoderm cells
Verification phase
Sensitivity of the NGS-based haplotyping method
for monogenic disorders in blastomere cells and in trophectoderm cells
for chromosomal disorders in in blastomere cells and in trophectoderm cells
for chromosomalaneuploidy in blastomere cells and in trophectoderm cells
Secondary outcome
NA
Background summary
The rationale for this study is to develop a new method that enables the
Preimplantation Genetic Haplotyping (PGH) of embryonic biopsies using next
generation Sequencing (NGS) in combination with specific algorithms for the
analysis of the genetic data. By demonstrating the clinical validity of this
method, it could eventually replace current analysis techniques for several PGD
indications.
This study is part of an international, multicentre study which will bring the
technology from a proof-of-principle to clinical application in the future.
Study objective
* To demonstrate the basic functionalities (robustness, reproducibility and
overall performance characteristics) of the NGS-based haplotyping method.
Secondary objective
* To demonstrate concordance between embryonic biopsy genetic analysis results
obtained with the NGS-based haplotyping method and current PGD analysis
techniques.
Study design
The present study is designed as a monocentric, cohort study in the
Netherlands. This study consists of two consecutive phases, a research phase
and a verification phase that will be carried out in a group of patients with a
clinical indication for PGD. After successful completion of this study a
multicentre, international retrospective and prospective validation study will
be initiated.The validation study does not belong to the scope of this
document.
During the research phase the feasibility of NGS-based haplotyping of WGA
samples from single blastomeres biopsied from cleavage stage embryos and
trophectoderm biopsies from human blastocysts will be tested. During the
verification phase the sensitivity of NGS-based haplotyping will be assessed
and compared to current PGD techniques (e.g. aCGH and indirect STR marker
analysis).
Study burden and risks
Participation in the study will not involve any risk or additional burden for
the patient. No additional visits, physical examinations, tests, blood samples
or biological material other than those already required for IVF/PGD are
needed. Participation in the study does not affect IVF/PGD treatment of the
patient nor will it have an added value for the patient at this stage of the
study.
P. Debyelaan 25
Maastricht 9229 HX
NL
P. Debyelaan 25
Maastricht 9229 HX
NL
Listed location countries
Inclusion criteria
Couple undergoed IVF/PGD treatment for a monogenic disease or chromosomal disorder (diagnosed by aCGH )
Exclusion criteria
Couples unable to give informed consent to all aspects of the study or unable to comply with the protocol.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL53056.000.15 |