Clinical trial
Next Generation Sequencing (NGS) Approach to Study Known and New Germline Mutations in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
Name
NEXT-FAMLY 1016
Description
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.
Trial arms
Trial start
2017-02-09
Estimated PCD
2023-12-31
Trial end
2023-12-31
Status
Recruiting
Treatment
Analysis with molecular biology
Molecular screening by next generation sequencing (NGS) platform, for known and unknown mutations potentially associated with the disease
Arms:
Analysis with molecular biology
Size
20
Primary endpoint
Discovery of predisposing mutations
After enrollment of the first 10 cases (an avarage of 2 years)
Eligibility criteria
Inclusion criteria:
Any patient with acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS) with:
1. a first- or second-degree relative with Acute leukemia or MDS or other myeloid malignancies
2. a first- or second-degree relative with Lymphoproliferative neoplasms
3. or with clinical features that resemble one of the familial MDS/AML predisposition syndromes:
* History of thrombocytopenia and/or a clinical bleeding propensity (as in RUNX1, ANKRD26 or ETV6 germline mutations)
* Abnormal nails or skin pigmentation, oral leukoplakia, idiopathic pulmonary fibrosis, unexplained liver disease (as in TERT and TERC germline mutations)
* Lymphedema, atypical infections, immune deficiencies (as in GATA2 germline mutations)
Exclusion Criteria:
1. any diagnosis other than acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS);
2. acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS) without a first- or second-degree relative with Acute leukemia or MDS or other myeloid malignancies or without a first- or second-degree relative with Lymphoproliferative neoplasms or with clinical features that resemble one of the familial MDS/AML predisposition syndromes;
3. unability to sign the informed consent
Protocol
{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'FAMILY_BASED', 'timePerspective': 'PROSPECTIVE'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Tumor DNA of index case will be extracted from 10 ml of PB collected at diagnosis in EDTA tubes. Mononuclear cells from PB (PBMC)will be separated and isolated by Ficoll gradient. Tumor DNA will be extracted possibly soon after the isolation. Tumor DNA of affected relative/-s will be extracted from PBMC isolated at diagnosis, or during the patients monitoring, and stored at -80°C. Tumor DNA previously extracted and stored at -20°C may be used in event of no PB or bone marrow sample available.\n\nGermline DNA of index case and relatives will be extracted by buccal epithelial cells isolated by Isohelix SK-2 DNA Buccal Swab Collection Kit by Therapak Corporation, Isohelix SK-2 DNA Buccal Swab Collection Kit.'}, 'enrollmentInfo': {'count': 20, 'type': 'ESTIMATED'}}
Updated at
2023-07-21
1 organization
1 product
1 indication
Indication
Leukemia