Condition: Hematologic Diseases · Sponsor: Meyer Children's Hospital IRCCS
The universe of Inborn errors of Immunity (IEI) is rapidly expanding: their clinical spectrum is not only characterised by infections but often includes haematological complications. Moreover, an increasing number of "IEI phenocopies" due to somatic mutations in specific cell types are progressively being unveiled and complicate the genetic plot of IEI, which are therefore not only caused by germline mutations. However, these aspects have never been studied by large prospective studies. This study aims to fill this gap by prospectively recruiting patients \<25 y/o with haematologic disorders that fall into one of the following 4 subgroups: autoimmune cytopenia (AICs), polyclonal lymphoproliferation (PL), monoclonal (malignant) lymphoproliferation (ML), bone marrow failure/myelodysplasia (BMF/MDS). Recruited subjects will undergo an extensive immunologic workup (extended immunophenotyping, cytokine and autoantibody dosage) together with genetic testing (NGS) to detect both germline and somatic variants. Bulk RNA sequencing will be performed either as functional validation of variants or to identify altered pathways in selected cases with inconclusive genetics. Patient advocacy organisations (PAOs) will be pivotal to assist patients' needs throughout the project and to raise awareness of predictive and yet unknown signs of IEI. The study involves recruitment a total of almost 700 children over a 3-year period. Considering recent studies on AICs and BMF/MDS, a global detection…
This description comes directly from the study's public registry record.
Eleonora Gambineri, MD · +390555662624 · eleonora.gambineri@meyer.it
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| CHU Sainte-Justine | Montreal, Canada, Canada | Recruiting |
| CHU Sainte-Justine | Montreal, Canada, Canada | Recruiting |
| Institut Imagine | Paris, France, France | Recruiting |
| Meyer Children's Hospital IRCCS, Firenze | Florence, Fi, Italy | Recruiting |
| University of Rome Tor Vergata | Rome, Italy, Italy | Recruiting |
| Vall d'Hebron Institut de Recerca | Barcelona, Spain | Recruiting |
| Karolinska Institutet | Stockholm, Sweden, Sweden | Recruiting |
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Source record: clinicaltrials.gov/study/NCT06857604