RecruitingNCT03058588

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


Sponsor

Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia

Enrollment

20 participants

Start Date

Feb 9, 2017

Study Type

OBSERVATIONAL

Conditions

Summary

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.


Eligibility

Plain Language Summary

Simplified for easier understanding

This study uses advanced genetic testing (next-generation sequencing) to look for inherited gene changes in patients with acute myeloid leukemia (AML) or a pre-leukemia condition (myelodysplastic syndrome, or MDS) who have family members with similar blood disorders — to understand whether the condition runs in families. **You may be eligible if...** - You have been diagnosed with AML or MDS - You have a close relative (parent, sibling, child, grandparent, aunt/uncle) who also has AML, MDS, or another blood cancer or immune system cancer - OR you have symptoms suggesting a hereditary form of AML/MDS, such as: a history of low platelets or unusual bleeding, abnormal nails or skin, immune deficiency, or swollen lymph nodes **You may NOT be eligible if...** - Your diagnosis is something other than AML or MDS - You have AML or MDS without any family history of blood or immune cancers and without features of a hereditary predisposition syndrome - You are unable to sign an informed consent form Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

GENETICAnalysis with molecular biology

Molecular screening by next generation sequencing (NGS) platform, for known and unknown mutations potentially associated with the disease


Locations(1)

Chair of Hematology and Bone marrow Transplant Unit

Brescia, Italy

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NCT03058588


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