Clinical Research Directory

Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data

A non-profit, translational, prospective and retrospective study. Patients will be enrolled according to the procedures described in the protocol, and samples will be processed and analyzed as specified in the protocol. Since constitutional bone marrow failure syndromes (CMF) are rare genetic disorders characterized by a variable and incompletely defined clinical phenotype, a partially unknown genetic etiology, and pathogenetic mechanisms that are only partly understood, we hypothesize that a number of patients currently diagnosed with idiopathic acquired aplastic anemia (AAA) or idiopathic single-lineage/multilineage bone marrow failure (BMF) may have been misdiagnosed and may actually have an underlying CMF. Therefore, our primary objective is to identify CMF underlying BMF and vice versa, by defining well-characterized patient cohorts based on clinical and family history, clinical manifestations, and immunological findings; identifying disease-specific parameters and biomarkers; and providing disease-specific guidelines to facilitate early diagnosis and, consequently, enable timely and appropriate treatment. In this context, the use of appropriate artificial intelligence (AI) tools is likely to improve the diagnostic accuracy of this approach.

Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders

This is a phase II trial of T cell receptor alpha/beta depletion (α/β TCD) peripheral blood stem cell (PBSC) transplantation in patients with inherited bone marrow failure (BMF) disorders to eliminate the need for routine graft-versus-host disease (GVHD) immune suppression leading to earlier immune recovery and potentially a reduction in the risk of severe infections after transplantation.

Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures

Phase II prospective trial to assess the rates of donor engraftment using reduced intensity conditioning (RIC) hematopoietic stem cell transplant (HSCT) and post-transplant cyclophosphamide (PTCy) for patients with primary immune deficiencies (PID), immune dysregulatory syndromes (IDS), inherited bone marrow failure syndromes (IBMFS), short telomere syndromes, Fanconi anemia, and non-Fanconi DNA double-strand break (DNA-dsb) repair disorder.