NCT07877727 Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data
| NCT ID | NCT07877727 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Istituto Giannina Gaslini |
| Condition | Inherited Bone Marrow Failure Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 250 participants |
| Start Date | 2025-05-29 |
| Primary Completion | 2026-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 250 participants in total. It began in 2025-05-29 with a primary completion date of 2026-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility Criteria
Inclusion Criteria: * 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. Exclusion Criteria: * Absence of signed informed consent and/or assent from the participant and/or their parents or legal guardians
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07877727 clinical trial?
This trial is open to participants of all sexes, aged 28 Days or older, up to 65 Years, studying Inherited Bone Marrow Failure Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07877727 currently recruiting?
Yes, NCT07877727 is actively recruiting participants. Contact the research team at segrematologia@gaslini.org for enrollment information.
Where is the NCT07877727 trial being conducted?
This trial is being conducted at Avellino, Italy, Genova, Italy, Naples, Italy, Verona, Italy.
Who is sponsoring the NCT07877727 clinical trial?
NCT07877727 is sponsored by Istituto Giannina Gaslini. The trial plans to enroll 250 participants.