Actively Recruiting
Next Generation Sequencing (NGS) in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
Led by Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · Updated on 2026-04-30
20
Participants Needed
1
Research Sites
516 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
The aim of this study is to look for predisposing mutations in patients and relatives affected by AML and MDS with familial history of myeloid or, less frequently, lymphoid malignancies. Taking advantage of a next generation sequencing (NGS) platform, screening for known and unknown mutations potentially associated with the disease will be done. The screening will be performed on affected and unaffected family members, in order to outline new pedigrees that either validate previous findings or constitute novel discoveries.
CONDITIONS
Official Title
Next Generation Sequencing (NGS) in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS)
- Having a first- or second-degree relative with acute leukemia, MDS, or other myeloid malignancies
- Having a first- or second-degree relative with lymphoproliferative neoplasms
- Showing clinical features similar to familial MDS/AML predisposition syndromes, such as thrombocytopenia, bleeding tendency, abnormal nails or skin pigmentation, oral leukoplakia, pulmonary fibrosis, liver disease, lymphedema, unusual infections, or immune deficiencies
You will not qualify if you...
- Diagnosis other than acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS)
- AML or MDS without a first- or second-degree relative affected by acute leukemia, MDS, other myeloid malignancies, or lymphoproliferative neoplasms, and without clinical features of familial MDS/AML syndromes
- Unable to provide informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Chair of Hematology and Bone marrow Transplant Unit
Brescia, Italy, 25123
Actively Recruiting
Research Team
D
Domenico Russo, MD
CONTACT
F
Francesca Schieppati, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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