NCT07877727Recruiting
Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data
Potenziare la Gestione Clinica Delle CMF Attraverso Una Rete Nazionale Pediatrica e Dell'Adulto Basata su Dati Biologici e Genetici / Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data
Source: ClinicalTrials.gov · Last updated 16 Oct 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 250 (estimated)
- First submitted
- 9 Oct 2026
- Start date
- 29 May 2025
- Primary completion date
- 31 Dec 2026
- Lead sponsor
- Istituto Giannina Gaslini
- NCT number
- NCT07877727
What you commit to
- Study type: Observational
- Planned participants: 250
- From 29 May 2025 to the primary completion date, 31 Dec 2026
- 4 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- Absence of signed informed consent and/or assent from the participant and/or their parents or legal guardians
Who the study is looking for
- Patients diagnosed 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).
- Signed informed consent and/or assent obtained from the participant and/or their parents or legal guardians, as applicable.
Age in the registry: 28 days to 65 years · Sex: All
Sites (4)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| AORN San Giuseppe Moscati Hematology and bone marrow Transplant Unit Coordinator of this site? Confirm its status | Avellino | Italy | Recruiting |
| IRCCS Istituto Giannina Gaslini Coordinator of this site? Confirm its status | Genova | Italy | Recruiting |
| Azienza Ospedaliera di Rilievo Nazionale Santobono Pausilipon Dipartimento di oncologia, ematologia e terapie cellulari Coordinator of this site? Confirm its status | Naples | Italy | Recruiting |
| Università degli Studi di Verona Department of Engineering for Innovation Medicine Coordinator of this site? Confirm its status | Verona | Italy | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.