Study of Blood Abnormalities in Children Under 16 With Genetically Confirmed Rasopathy Conditions

What this Trial Is About

Researchers are studying children with RASopathies, such as Noonan syndrome and related genetic conditions, who may have various blood abnormalities. These can include issues like monocytosis, myelemia, low platelet counts, or enlarged spleen, which sometimes lead to juvenile myelomonocytic leukemia. The study aims to describe how often these blood abnormalities occur, when they appear, how they change over time, and how they relate to specific genetic mutations. The study is observational and involves analyzing blood cell counts and blood smears at diagnosis and one year later. For children under 3 years old at certain centers, blood samples will also be collected for biobanking. This research follows recent guidelines recommending blood tests for all newly diagnosed patients and repeat testing every six months until age 2. Participants will have their blood analyzed at the start and after one year to track the presence and changes of blood abnormalities. The study will monitor outcomes over five years, including event-free survival. The goal is to help doctors decide the best schedule for blood follow-up based on a childs genetic diagnosis. The study is led by Assistance Publique - Hpitaux de Paris and continues through November 2029.

Hematological Anomalies in Children With Rasopathy