"A Privacy-protecting Environment for Child Transplants Health Related and Genomic Data Integration in the European Reference Network"

NCT ID: NCT07194057

Last Updated: 2025-09-26

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

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-09-30

Study Completion Date

2028-01-31

Brief Summary

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Protect\_Child\_101 is an observational study to be performed in children that have undergone a liver or renal transplant.

The aim of this study is to analyse small variations in the genetic material (DNA) of transplanted children. The investigators will also study a type of chemical 'marks' called methylations, which do not change the DNA itself, but can affect how it functions. These marks can influence how certain diseases develop or how the body responds to transplantation.

Specifically, investigators seek to discover:

* Whether there are genetic or epigenetic (methylation) alterations that may explain why some children develop serious diseases that require transplantation.
* If these alterations can help us predict possible complications after transplantation, such as organ rejection, infections, organ failure, cancer development.

Within this study, data from the child's medical history will be collected. The data to be collected are demographic data (gender, age, ethnicity), clinical data, personal and family history possibly related to his/her disease, course and evolution of the disease, and complementary and laboratory examinations collected from his/her clinical history.

The only non-routine tests to be performed will be the genomic and methylomic tests. Nevertheless, these determinations will be performed on samples obtained during the child's routine care. No extra intervention is planned as part of this study.

Samples and clinical data will be collected at different time points after transplantation. Schematically, collection is planned for months 0, 1, 3, 6, 12 and 24 post-transplant. In addition to these pre-established points, comprehensive data collection will be attempted when the child suffers a relevant clinical event, e.g. infection, treatment toxicity, organ rejection (post-transplant complication).

Detailed Description

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Conditions

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Transplant Complication Kidney Transplant Liver Transplant

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

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Paediatric kidney and liver transplant that suffered a clinical event of interest after transplant

This cohort is made up of paediatric kidney and liver patients that had a clinical event after transplantation. The main clinical events of interest of this study are: viral infections, bacterial infections, drug-related toxicity and rejection. All patients will undergo genomic and methylomic tests to diagnose biological risk factors that could help determine the risk of developing the clinical event of interest.

Whole genome sequencing

Intervention Type GENETIC

Whole genome sequencing (WGS) is an advanced genomic technique that allows for the comprehensive analysis of an individual's entire DNA sequence, including both coding and non-coding regions. In the context of pediatric transplantation, WGS offers a powerful tool for uncovering underlying genetic disorders that may influence transplant eligibility, donor-recipient compatibility, immune response, or risk of post-transplant complications. It enables the identification of rare monogenic diseases, pharmacogenomic markers relevant to immunosuppressive therapy, and potential genetic predispositions to graft rejection or infection. Integrating WGS into transplant evaluation process enhances personalized medicine approaches, contributing to improved long-term outcomes in pediatric transplant recipients.

Polygenic Risk Score Calculation

Intervention Type GENETIC

A polygenic risk score (PRS) calculation will be performed to quantitatively estimate the an individual's genetic predisposition to the original disease that led to transplantation. These scores are calculated by aggregating the weighted sum of risk alleles-most commonly single nucleotide polymorphisms (SNPs)-each of which contributes a small effect size as determined by genome-wide association studies (GWAS).

Methylome and episignatures

Intervention Type DIAGNOSTIC_TEST

Methylomic analysis in paediatric transplantation refers to the comprehensive profiling and study of DNA methylation patterns across the genome to understand epigenetic modifications associated with transplant-related outcomes.

This epigenetic approach enables the identification of differentially methylated regions (DMRs) that may correlate with clinical phenotypes, such as graft acceptance or rejection, infectious complications, or immune dysregulation.

The studies withjin the Protect\_Child\_101 project will be aimed at: 1) Refinement of episignatures, to increase specificity, sensitivity and robustness of those episignatures that already exist and 2) Discovery and validation of new disease, gene or variant specific mDNA signatures.

Paediatric kidney and liver transplant patients with no events after transplant

This cohort is made up of paediatric kidney and liver patients that did not develop a clinical event after transplantation. All patients will undergo genomic and methylomic tests. The genetic and methylomic results will be compared to those of the patients that developed a clinical event. The objetive is to identify biological risk factors that could help determine the risk of developing the clinical event of interest.

Whole genome sequencing

Intervention Type GENETIC

Whole genome sequencing (WGS) is an advanced genomic technique that allows for the comprehensive analysis of an individual's entire DNA sequence, including both coding and non-coding regions. In the context of pediatric transplantation, WGS offers a powerful tool for uncovering underlying genetic disorders that may influence transplant eligibility, donor-recipient compatibility, immune response, or risk of post-transplant complications. It enables the identification of rare monogenic diseases, pharmacogenomic markers relevant to immunosuppressive therapy, and potential genetic predispositions to graft rejection or infection. Integrating WGS into transplant evaluation process enhances personalized medicine approaches, contributing to improved long-term outcomes in pediatric transplant recipients.

Polygenic Risk Score Calculation

Intervention Type GENETIC

A polygenic risk score (PRS) calculation will be performed to quantitatively estimate the an individual's genetic predisposition to the original disease that led to transplantation. These scores are calculated by aggregating the weighted sum of risk alleles-most commonly single nucleotide polymorphisms (SNPs)-each of which contributes a small effect size as determined by genome-wide association studies (GWAS).

Methylome and episignatures

Intervention Type DIAGNOSTIC_TEST

Methylomic analysis in paediatric transplantation refers to the comprehensive profiling and study of DNA methylation patterns across the genome to understand epigenetic modifications associated with transplant-related outcomes.

This epigenetic approach enables the identification of differentially methylated regions (DMRs) that may correlate with clinical phenotypes, such as graft acceptance or rejection, infectious complications, or immune dysregulation.

The studies withjin the Protect\_Child\_101 project will be aimed at: 1) Refinement of episignatures, to increase specificity, sensitivity and robustness of those episignatures that already exist and 2) Discovery and validation of new disease, gene or variant specific mDNA signatures.

Interventions

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Whole genome sequencing

Whole genome sequencing (WGS) is an advanced genomic technique that allows for the comprehensive analysis of an individual's entire DNA sequence, including both coding and non-coding regions. In the context of pediatric transplantation, WGS offers a powerful tool for uncovering underlying genetic disorders that may influence transplant eligibility, donor-recipient compatibility, immune response, or risk of post-transplant complications. It enables the identification of rare monogenic diseases, pharmacogenomic markers relevant to immunosuppressive therapy, and potential genetic predispositions to graft rejection or infection. Integrating WGS into transplant evaluation process enhances personalized medicine approaches, contributing to improved long-term outcomes in pediatric transplant recipients.

Intervention Type GENETIC

Polygenic Risk Score Calculation

A polygenic risk score (PRS) calculation will be performed to quantitatively estimate the an individual's genetic predisposition to the original disease that led to transplantation. These scores are calculated by aggregating the weighted sum of risk alleles-most commonly single nucleotide polymorphisms (SNPs)-each of which contributes a small effect size as determined by genome-wide association studies (GWAS).

Intervention Type GENETIC

Methylome and episignatures

Methylomic analysis in paediatric transplantation refers to the comprehensive profiling and study of DNA methylation patterns across the genome to understand epigenetic modifications associated with transplant-related outcomes.

This epigenetic approach enables the identification of differentially methylated regions (DMRs) that may correlate with clinical phenotypes, such as graft acceptance or rejection, infectious complications, or immune dysregulation.

The studies withjin the Protect\_Child\_101 project will be aimed at: 1) Refinement of episignatures, to increase specificity, sensitivity and robustness of those episignatures that already exist and 2) Discovery and validation of new disease, gene or variant specific mDNA signatures.

Intervention Type DIAGNOSTIC_TEST

Other Intervention Names

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Methylomic array Polygenic risk score

Eligibility Criteria

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Inclusion Criteria

* ● Paediatric patients (6 months to 18 years old) with liver or kidney transplant.

Both patients with de novo transplantation or in follow-up can be included in the study.

* For the retrospective cohort, only patients within the first 5 years after transplantation will be included.
* Patients and/or parents agreeing to participate in the study and provide consent for the obtention of clinical data and samples for genomic and methylomic analysis and the use of the information according to the protocol.

Exclusion Criteria

* Patients that are not being followed up in the clinical site.
* Subjects alternating between different clinical sites. Subjects/Tutors that don't understand the informed consent form.
* Subject or their legally authorized representative does not sign the informed consent document.
* Re-transplantation or AB0-incompatible transplantation.
Minimum Eligible Age

6 Months

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Instituto de Investigación Hospital Universitario La Paz

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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University Medical Center Hamburg-Eppendorf (UKE),

Hamburg, , Germany

Site Status

Mediterranean Institute for Transplantation (ISMETT)

Palermo, Sicily, Italy

Site Status

University Hospital Padova

Padua, , Italy

Site Status

Hospital Universitario La Paz

Madrid, Madrid, Spain

Site Status

Countries

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Germany Italy Spain

Central Contacts

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Paula Valle Simon, PhD

Role: CONTACT

914975485

Facility Contacts

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Jan Beime, MD

Role: primary

+49 40 74100

Giusy Ranucci, MD

Role: primary

+39 912192111

Mara Cananzi

Role: primary

049-821.1662

Paula Valle Simón, PhD

Role: primary

Other Identifiers

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PI-6796

Identifier Type: -

Identifier Source: org_study_id

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