Inherited Bone Marrow Failure Syndrome2023-12377081NCT07877727
Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data
An observational study of Inherited Bone Marrow Failure Syndrome and Fanconi Anemia, run by Istituto Giannina Gaslini at 4 sites in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 28 days to 65 years
- Conditions the study is for
- Inherited Bone Marrow Failure Syndrome, Fanconi Anemia, Dyskeratosis Congenita
- How many people
- 250 participants
- Where
- 4 sitesItaly
- Study dates
- 29 May 2025to 31 Dec 2026
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 28 days to 65 years
- All sexes
- Child, Adult, Older adult
Study population: 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)
Who may be able to join
- 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.
Who cannot join
- Absence of signed informed consent and/or assent from the participant and/or their parents or legal guardians
Trial locations and contacts
4 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy4 sites, 4 recruiting
- Recruiting
AORN San Giuseppe Moscati Hematology and bone marrow Transplant Unit
Avellino
Antonio Maria Risitano, +393475786759, amrisita@unina.it
- Recruiting
IRCCS Istituto Giannina Gaslini
Genova
Carlo Dufour, +3901056363528, segrematologia@gaslini.org
- Recruiting
Azienza Ospedaliera di Rilievo Nazionale Santobono Pausilipon Dipartimento di oncologia, ematologia e terapie cellulari
Naples
Giuseppe Menna, +393485171510, giumenna56@libero.it
- Recruiting
Università degli Studi di Verona Department of Engineering for Innovation Medicine
Verona
Anna Savoia, +393284695593, Anna.savoia@univr.it
About this study
Official title: 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
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.
Read more
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.
- Conditions
- Inherited Bone Marrow Failure Syndrome, Fanconi Anemia, Dyskeratosis Congenita, Telomere Biology Disorder, Congenital Neutropenia, Primary Immune Regulatory Disorder
- Medical subject headings
- Congenital Bone Marrow Failure Syndromes, Fanconi Anemia, Dyskeratosis Congenita, Neutropenia, Severe Congenital, Autosomal Recessive 3, Congenital amegakaryocytic thrombocytopenia, Hemoglobinuria, Paroxysmal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Fanconi anemia (FA) | Fanconi anemia (FA) | |
| Dyskeratosis congenita (DC) e altri telomere biology disorders (TBD) | Dyskeratosis congenita (DC) e altri telomere biology disorders (TBD) | |
| Congenital neutropenia (CN) | Congenital neutropenia (CN) | |
| Primary immune regulatory disorders (PIRD) | Primary immune regulatory disorders (PIRD) | |
| Congenital amegakaryocytic thrombocytopenia (CAMT) | Congenital amegakaryocytic thrombocytopenia (CAMT) | |
| Acquired aplastic anemia (AAA), with or without paroxysmal nocturnal hemoglobinuria (PNH) | Acquired aplastic anemia (AAA), with or without paroxysmal nocturnal hemoglobinuria (PNH) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Within the 24-month project period
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Oct 2026
- Study start29 May 2025
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited Bone Marrow Failure SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 250 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Giannina Gaslini
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07877727
- Sponsor's protocol ID
- PNRR-MR1-2023-12377081 (13958)
- Acronym
- 2023-12377081
- Status last verified
- Oct 2026
- First submitted
- 9 Oct 2026
- Last updated
- 16 Oct 2026
- Results posted
- No
- Individual data sharing
- Undecided