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

Sponsor
Instituto de Investigación Hospital Universitario La Paz
Study ID
NCT07194057
Status
Not Yet Recruiting

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Conditions

  • Kidney Transplant
  • Liver Transplant
  • Transplant Complication

Eligibility Criteria

Sex
ALL
Age
6 Months - 18 Years
Healthy Volunteers
Not accepted

Interventions

  • Whole genome sequencing — 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 — 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 — 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.

Study Details

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).

Key Dates

First listed
Sep 26, 2025
Start date
Sep 30, 2025
Status verified
Sep 2025
Primary completion
Jan 31, 2028
Completion
Jan 31, 2028

Study Design

Enrollment
200 participants (estimated)

Arms

  • Arm: 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.
  • Arm: 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.

Primary Outcome Measure

Epstein Barr Infection [ Time Frame: From transplant until end of post-transplant follow-up period (up to 7years) ]

Central Contacts

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