Study of Abnormally Fertilized Embryos

NCT ID: NCT06940973

Last Updated: 2025-04-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-04-30

Study Completion Date

2026-09-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

The goal of this observational study is to determine the diploidy rate of haploid and triploid embryos from in vitro fertilization (IVF) cycles. The main questions it aims to answer are:

* Can a molecular genetic fertilization check of abnormally fertilized embryos be used to expand opportunities for couples undergoing assisted reproduction treatment?
* Is the chromosomal loss or gain present in abnormally fertilized embryos predominantly maternal in origin?

For this purpose, we will evaluate the morphokinetics and ploidy of about 300 embryos with different types of abnormal pronuclear patterns (1PN, 2.1PN, and 3PN) that reach the blastocyst stage. Whenever possible, embryos with a non-diploid chromosomal complement will also be assessed to determine the origin (maternal or paternal) of the chromosomal set that has been lost or gained.

Study subjects will follow their previously scheduIed IVF/ICSI treatment and no additional visits/interventions will be required for participating.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Chromosomes are cellular structures containing the majority of the genetic information of a living organism. Gametes (oocytes and spermatozoa) contain only a single set of 23 chromosomes within structures known as pronuclei (PN). Upon fertilization, the 23 chromosomes from the oocyte and the 23 chromosomes from the sperm combine to form a 2PN zygote, which contains a total of 46 chromosomes.

In assisted reproduction (ART) laboratories, the embryologists can determine through morphological evaluation whether the fertilization process was normal (2PN) or abnormal (0PN, 1PN, or \>2PN). For an ART treatment, only a successfully fertilized oocyte (2PN) that develops to the blastocyst stage may be suitable for embryo transfer. However, previous studies have demonstrated that some embryos from oocytes with abnormal fertilization may possess a normal chromosomal content and could be used in ARTs when embryos from normal fertilization are not available.

There are genetic analysis techniques to determine not only if an embryo is euploid (contains a normal number of chromosomes) but also to assess if it is haploid, diploid or triploid (1PN, 2.1PN, and 3PN respectively). These techniques may be applied to "rescue" embryos with abnormal fertilization that are currently being discarded. This approach could be beneficial for IVF patients with a limited number of viable embryos available (diminished ovarian reserve cases, advanced maternal age, poor response to ovarian stimulation, etc.).

The current prospective and observational study has been approved by the competent Research Ethics Committee and every potential participant will be asked to sign the study informed consent.

The 300 embryos that will be part of the study will be recruited in the laboratory of the collaborating center on the day of fertilization after performing the conventional IVF procedures. Following these same routine procedures, biological samples from both parents will also be stored to perform the genetic analysis to determine the origin of the chromosomal anomalies. A biopsy will be taken from the selected embryos when they reach the blastocyst stage for the genetic analysis that will allow detecting whether there is indeed any chromosomal anomaly. All embryos not confirmed as chromosomally normal will be thawed, washed, and cultured for a second biopsy to confirm their previous diagnosis and the origin of the chromosomal abnormalities. For this new analysis, in addition to the biopsies, individual samples of the culture media of the thawed blastocysts will be collected and stored. Samples will be shipped to Igenomix for the genetic research and further data analysis.

The expected duration of the study is 18 months. Embryos will be included in the participating center for an estimated period of 13 months. Participants involvement in the study is just linked to the moment of the consent form signature. Exceptionally, embryos from abnormal fertilization that were informed as chromosomally normal after the first biopsy can be considered to transfer providing there are no other embryos available. If the patient decides to proceed with the transfer, her clinical follow-up will be part of the study until achieving ongoing pregnancy (12 gestational weeks). After that, her participation in the study will end but her physician will continue monitoring the pregnancy until delivery, if applicable, in accordance with the standard clinical practice.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Infertility (IVF Patients)

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Blastocysts from abnormally fertilized oocytes during assisted reproduction

During the conventional ICSI/IVF procedures in the laboratory, the embryologist observing fertilization will identify embryos with an abnormal pronuclear pattern and preselect them for the study. These embryos will be cultured in a time-lapse incubator following the laboratory's standard practice. All recorded morphokinetic parameters, along with the corresponding images, will be documented. Each embryo will be monitored, its developmental quality assessed and recorded to determine whether it reaches the blastocyst stage. If so, the researchers will contact the patient to ask consent for these embryos to be included in the study.

Embryos with an abnormal pronuclear pattern that fail to reach the blastocyst stage due to developmental blockage will be discarded.

No drugs or medical devices will be used.

Parental samples

Intervention Type GENETIC

On fertilization, following the conventional ICSI/IVF procedure, samples from cumulus cells (obtained during the routine oocyte denudation process) and surplus sperm cells present in seminal plasma will be retrieved. These samples will be stored frozen at -20°C until they are sent to Igenomix. There, they will be used to perform the genetic analysis required to achieve the study's objectives, provided the patient consents to participate. If the patient ultimately chooses not to participate, these samples will be destroyed.

Parents may be asked to provide a saliva sample for the same purpose in cases where obtaining the samples during fertilization was not possible or if the collected samples were unsuitable for processing in the laboratory. The saliva sample may be collected at the clinic during one of the scheduled visits for reproductive treatment or, alternatively, by the parents at home using a kit provided by the clinic.

PGT-A

Intervention Type DIAGNOSTIC_TEST

On day 3 of development, assisted hatching will be performed to facilitate biopsy at the blastocyst stage. Each embryo will be biopsied in the laboratory using conventional trophectoderm (TE) biopsy techniques on day +5, +6, or +7 of development, depending on when they reach the appropriate blastocyst stage. After biopsy, blastocyst will be vitrified following the clinical routine protocol and store until the genetic results are available. The biopsy samples will be placed in a PCR tube labeled with its corresponding study-specific code and stored in a cold rack at 4°C before being transferred to a freezer at -20°C. Finally, the samples will be sent to the Igenomix for preimplantation genetic testing for aneuploidy.

TE rebiopsies and spent blastocyst media collection

Intervention Type GENETIC

After obtaining the PGT-A results, any embryo not genetically confirmed as euploid and without ploidy abnormalities will be thawed, washed, and cultured for rebiopsy. A complementary analysis using next-generation sequencing (NGS) techniques will be performed to confirm the diagnosis and determine the origin of the abnormalities. For this additional analysis, in addition to the new biopsies, the individual culture medium of each embryo will be aspirated after an incubation period of 8 to 24 hours. The collected medium will be placed in PCR tubes and stored in a freezer at -20°C before being sent to the laboratory.

Regardless the result of these complementary analysis, no rebiopsied blastocyst will be considered for clinical purposes.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Parental samples

On fertilization, following the conventional ICSI/IVF procedure, samples from cumulus cells (obtained during the routine oocyte denudation process) and surplus sperm cells present in seminal plasma will be retrieved. These samples will be stored frozen at -20°C until they are sent to Igenomix. There, they will be used to perform the genetic analysis required to achieve the study's objectives, provided the patient consents to participate. If the patient ultimately chooses not to participate, these samples will be destroyed.

Parents may be asked to provide a saliva sample for the same purpose in cases where obtaining the samples during fertilization was not possible or if the collected samples were unsuitable for processing in the laboratory. The saliva sample may be collected at the clinic during one of the scheduled visits for reproductive treatment or, alternatively, by the parents at home using a kit provided by the clinic.

Intervention Type GENETIC

PGT-A

On day 3 of development, assisted hatching will be performed to facilitate biopsy at the blastocyst stage. Each embryo will be biopsied in the laboratory using conventional trophectoderm (TE) biopsy techniques on day +5, +6, or +7 of development, depending on when they reach the appropriate blastocyst stage. After biopsy, blastocyst will be vitrified following the clinical routine protocol and store until the genetic results are available. The biopsy samples will be placed in a PCR tube labeled with its corresponding study-specific code and stored in a cold rack at 4°C before being transferred to a freezer at -20°C. Finally, the samples will be sent to the Igenomix for preimplantation genetic testing for aneuploidy.

Intervention Type DIAGNOSTIC_TEST

TE rebiopsies and spent blastocyst media collection

After obtaining the PGT-A results, any embryo not genetically confirmed as euploid and without ploidy abnormalities will be thawed, washed, and cultured for rebiopsy. A complementary analysis using next-generation sequencing (NGS) techniques will be performed to confirm the diagnosis and determine the origin of the abnormalities. For this additional analysis, in addition to the new biopsies, the individual culture medium of each embryo will be aspirated after an incubation period of 8 to 24 hours. The collected medium will be placed in PCR tubes and stored in a freezer at -20°C before being sent to the laboratory.

Regardless the result of these complementary analysis, no rebiopsied blastocyst will be considered for clinical purposes.

Intervention Type GENETIC

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* ART patients who sign the Informed Consent of the study.
* Age: oocytes from women ≤ 49 years and semen from men ≤ 60 years. Donation of gametes is allowed.
* ≥1 blastocysts from oocytes with an abnormal pronuclear pattern (1PN, 2.1PN, and/or 3PN) and with the presence of 2 polar bodies (PB), cultured in a time-lapse incubator.
Minimum Eligible Age

18 Years

Maximum Eligible Age

49 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Igenomix

INDUSTRY

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Pere Mir Pardo, PhD

Role: PRINCIPAL_INVESTIGATOR

Igenomix

Carmen Rubio Lluesa, PhD

Role: PRINCIPAL_INVESTIGATOR

Igenomix

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Equipo Médico Crespo Valencia

Valencia, Valencia, Spain

Site Status

Countries

Review the countries where the study has at least one active or historical site.

Spain

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Carlos A Gomez De La Cruz, BSc MSc

Role: CONTACT

+34963905310

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Jose Teruel López, BSc MSc

Role: primary

+34 961 042 557

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

EJC-SAFE-24-02

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.