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Taking people in ItalyNo phase

National network studying inherited bone marrow failure syndromes in children and adults

Studies biological and genetic data in children and adults with inherited bone marrow failure.

Key facts

Who runs it
Istituto Giannina Gaslini
Where
Avellino, Genova, Naples, and Verona, ItalySee the 4 sites
Trial code
Registry title
Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data
Status
Recruiting
People taking part
250 people, planned
Started
29 May 2025
Expected to end
31 Dec 2026
Type of study
Observational, 6 groups
Record updated
16 October 2026

Who can take part

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for children and adults diagnosed with an inherited bone marrow failure syndrome or acquired aplastic anemia, with or without PNH.

Age
From 28 Days to 65 Years.
Sex
All sexes can join.
Disease stage
A diagnosis of Fanconi anemia, dyskeratosis congenita or another telomere biology disorder, congenital neutropenia, primary immune regulatory disorder, congenital amegakaryocytic thrombocytopenia, or acquired aplastic anemia, with or without paroxysmal nocturnal hemoglobinuria (PNH).

Main reasons for not taking part

  • No signed informed consent and/or assent from the participant or their parents or legal guardians

The registry criteria, word for word

Show all 3 criteriaShow less

Who can take part

  • 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 take part

  • Absence of signed informed consent and/or assent from the participant and/or their parents or legal guardians

Where in Italy

  • AORN San Giuseppe Moscati Hematology and bone marrow Transplant UnitAvellino, ItalyContact: Antonio Maria RisitanoTaking people
  • IRCCS Istituto Giannina GasliniGenova, ItalyContact: Carlo DufourTaking people
  • Azienza Ospedaliera di Rilievo Nazionale Santobono Pausilipon Dipartimento di oncologia, ematologia e terapie cellulariNaples, ItalyContact: Giuseppe MennaTaking people
  • Università degli Studi di Verona Department of Engineering for Innovation MedicineVerona, ItalyContact: Anna SavoiaTaking people

About the trial

What the trial wants to find out

A non-profit, translational, prospective and retrospective study.

Read full original descriptionShow less

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.

The 6 groups in the trial

  • 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)

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
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
Plain-language title
National network studying inherited bone marrow failure syndromes in children and adultsGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 13 November 2026.
Record updated
16 October 2026