Understanding congenital bone marrow failure and related disorders through a national network

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is an observational, translational study enrolling patients with Fanconi anemia, dyskeratosis congenita, telomere biology disorders, congenital neutropenia, and related disorders to better define clinical and genetic features. It uses retrospective and prospective data collection and sample processing to identify disease-specific biomarkers and to clarify misdiagnoses between constitutional marrow failure and idiopathic cases. The goal is to characterize well-defined cohorts based on clinical history, manifestations, and immune findings, to improve understanding of underlying etiologies. No interventions are described in the protocol here; study activities focus on data collection, sample analysis, and observational correlations. The study is conducted across multiple Italian institutions under a national network.

Why it matters

Who can join: the full rules

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

Where it's running

• AORN San Giuseppe Moscati Hematology and bone marrow Transplant Unit
  Avellino, Italy Recruiting
• IRCCS Istituto Giannina Gaslini
  Genova, Italy Recruiting
• Azienza Ospedaliera di Rilievo Nazionale Santobono Pausilipon Dipartimento di oncologia, ematologia e terapie cellulari
  Naples, Italy Recruiting
• Università degli Studi di Verona Department of Engineering for Innovation Medicine
  Verona, Italy Recruiting

Study contacts

• Study coordinator: Carlo Dufour
• Email: segrematologia@gaslini.org
• Phone: +3901056363528

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.