An observational study in Inherited Bone Marrow Failure Syndrome, Fanconi Anemia and Dyskeratosis Congenita, sponsored by Istituto Giannina Gaslini. Recruiting at 4 sites in Italy. Open to participants aged 28 Days to 65 Years. Per ClinicalTrials.gov, last updated 2026-10-16.
Sponsored by Istituto Giannina Gaslini · Observational
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.
101 studies on the registry are indexed under Fanconi Anemia; 22 are open to participants now.
This study's planned enrollment of 250 is above the median of 94 across 30 observational studies indexed under Fanconi Anemia.
Browse Fanconi Anemia studies →Istituto Giannina Gaslini is the lead sponsor of 50 studies on the registry; 33 are open to participants now.
Counted across the registry records on this site, refreshed daily.
All patients with Fanconi anemia (FA), dyskeratosis congenita (DC) and other telomere biology disorders (TBD), congenital neutropenia (CN), primary immune regulatory disorders (PIRD), congenital amegakaryocytic thrombocytopenia (CAMT), and acquired aplastic anemia (AAA), with or without paroxysmal nocturnal hemoglobinuria (PNH)
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Exclusion Criteria:
Fanconi anemia (FA)
Dyskeratosis congenita (DC) e altri telomere biology disorders (TBD)
Congenital neutropenia (CN)
Primary immune regulatory disorders (PIRD)
Congenital amegakaryocytic thrombocytopenia (CAMT)
Acquired aplastic anemia (AAA), with or without paroxysmal nocturnal hemoglobinuria (PNH)
Early Diagnosis and Molecular Characterization of CMF and AAA
To improve the early diagnosis of constitutional bone marrow failure syndromes (CMF) and acquired aplastic anemia (AAA) through the integration of clinical, laboratory, immunological, and genetic data. At least 50 newly enrolled patients will be evaluated prospectively over the first 21 months, alongside approximately 200 previously referred patients analyzed retrospectively using artificial intelligence (AI). The diagnostic work-up will include the implementation of additional tests, such as telomere length assessment by flow-FISH, serum thrombopoietin measurement, and immunophenotyping by flow cytometry. Whole-genome sequencing and functional studies will be used to identify disease-causing variants, copy number variations (CNVs), and clarify variants of uncertain significance (VUS). Early and accurate diagnosis will support appropriate targeted treatment, genetic counseling, surveillance for bone marrow failure and malignancies, and identification of suitable related donors.
Time frame: Within the 24-month project period
Plan to share: Undecided
No publications or documents are linked to this record.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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Istituto Giannina Gaslini