NCT03058588Recruiting
Next Generation Sequencing (NGS) in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
Next Generation Sequencing (NGS) Approach to Study Known and New Germline Mutations in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
Source: ClinicalTrials.gov · Last updated 30 Apr 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 20 (estimated)
- First submitted
- 9 Feb 2017
- Start date
- 9 Feb 2017
- Primary completion date
- 31 Dec 2026
- Lead sponsor
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
- Diseases
- Acute myeloid leukemia, Childhood cancers
- NCT number
- NCT03058588
What you commit to
- Study type: Observational
- Planned participants: 20
- From 9 Feb 2017 to the primary completion date, 31 Dec 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- any diagnosis other than acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS);
- 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;
Other
- unability to sign the informed consent
Who the study is looking for
- Any patient with acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS) with:
- a first- or second-degree relative with Acute leukemia or MDS or other myeloid malignancies
- a first- or second-degree relative with Lymphoproliferative neoplasms
- 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)
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Chair of Hematology and Bone marrow Transplant Unit Coordinator of this site? Confirm its status | Brescia | Italy | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.