University of Utah
Some people develop erythrocytosis, a condition characterized by having too many red blood cells, because of inherited changes (mutations) in genes such as EPAS1, EGLN1, or VHL. These genes are involved in the body's oxygen-sensing pathway and can cause the body to produce excess red blood cells. High red blood cell counts can increase the risk of symptoms and complications, including headaches, blood clots, and cardiovascular problems. This study will evaluate whether belzutifan, a medication that blocks the activity of HIF-2α, can reduce red blood cell production and improve blood counts in patients with erythrocytosis caused by these genetic mutations. Participants will receive belzutifan and undergo regular clinical assessments and laboratory testing to monitor treatment response and safety. The results of this study may provide a new targeted treatment option for patients with hereditary erythrocytosis caused by abnormalities in the oxygen-sensing pathway.
Inclusion Criteria: * 1\. Male or female subject aged ≥ 18 years old with erythrocytosis (Hb\>18g/dL in male and Hb\>16g/dL in a female\>18 years old and Hb\>0.5g/dL the upper limit of normal range for their age) with a known EPAS1, EGLN1, or VHL mutation 2. Neutrophils\>1.5 k/uL, Hb\>10g/dL, platelet count \>100x106 without transfusions 3. CrCl\>30using Cockcroft Gault; total bilirubin \<1.5x ULN (\<3xULN in patients with Gilbert's disease), and alkaline phosphatase\<2.5x ULN 4. Females or male patients with a female partner of childbearing potential must agree to effective methods of contra…
Belzutifan is an oral hypoxia-inducible factor 2 alpha (HIF-2α) inhibitor administered to patients with erythrocytosis caused by pathogenic mutations in EPAS1, EGLN1, or VHL. Treatment is intended to suppress abnormal HIF signaling and reduce excessive red blood cell production.
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