"A Privacy-protecting Environment for Child Transplants Health Related and Genomic Data Integration in the European Reference Network"
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Whole genome sequencing, Polygenic Risk Score Calculation, Methylome and episignatures.
- Who it may be relevant to
- Registry conditions: Transplant Complication, Kidney Transplant, Liver Transplant. Basic parameters: 6 months — 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Germany, Italy, Spain
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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).
Interventions
- Genetic 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, p - 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). - Diagnostic test 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\
Primary outcome measures
- Epstein Barr Infection [Time frame: From transplant until end of post-transplant follow-up period (up to 7years)]
- Cytomegalovirus infection [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- BK virus infection [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Cholangitis [Time frame: From transplant until end of post-transplant follow-up period]
- Urinary Tract Infection [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Sepsis [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Renal Calcineurin Inhibitors toxicity [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Mycophenolate mofetil toxicity [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- mTOR inhibitor toxicity [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Thrombotic microangiopathy [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
Secondary outcome measures (12)
- Liver Primary non-function [Time frame: From transplant to post-trasnplant follow-up period (up to 7 years)]
- Liver Primary non-function [Time frame: From transplant to post-transplant follow-up period (up to 7 years)]
- Liver Primary non-function [Time frame: From transplant to post-trasnplant follow-up period (up to 7 years)]
- Kidney primary non-function [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Liver early allograft dysfunction [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Delayed kidney Graft Function [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Vascular Complications [Time frame: From transplant until end of post-transplant follow-up period (Up to 7 years)]
- Biliary Complications [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Urological complications [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Post-transplant lymphoproliferative disease [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Post-transplant lymphoproliferative disease [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
- Diabetes [Time frame: From transplant until end of post-transplant follow-up period (up to 7 years)]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 2 centers
- Mediterranean Institute for Transplantation (ISMETT) — Palermo
- University Hospital Padova — Padova
Germany · 1 center
- University Medical Center Hamburg-Eppendorf (UKE), — Hamburg
Spain · 1 center
- Hospital Universitario La Paz — Madrid
Identifiers
NCT: NCT07194057 · PI-6796