Hereditary Xerocytosis

Our most important partnership? Our patients.

SpringWorks Therapeutics is working with patients, families and advocacy groups to understand the patient experience—what it’s like for patients living day-to-day with a disease. Our mission is to translate these learnings into tangible solutions for patients, such as improving the design of our clinical trials.

Hereditary Xerocytosis

Hereditary xerocytosis is an autosomal dominant genetic disorder of the red blood cells caused by abnormal permeability of critical cations (K+, Ca+). Red blood cells become dehydrated due to loss of potassium and cell water. The fragility of the red cells can lead to a ranging severity of anemia; in some cases, it will lead to severe anemia that requires frequent blood transfusions. Hereditary xerocytosis is also associated with jaundice, fatigue, splenomegaly (swelling of the spleen) and gallstones.

Our Therapy

  • Name: Senicapoc (PF-05416266), a Gardos Channel Blocker
  • Senicapoc therapy to treat red blood cell dehydration due to mutations in KCNN4 is promising
  • Demonstrated good safety/tolerability profile in previous Phase 1-3 studies

How It Works

The Gardos channel is a protein “pump” that expels intracellular potassium when activated by calcium. We are exploring how a senicapoc-induced blockade of the Gardos channel may prevent the dehydration of cells seen in patients with hereditary xerocytosis.

Key Papers

Program Status: Phase 2 Ready

SpringWorks is working with a diagnostic collaborator to improve diagnosis of hereditary xerocytosis and provide patients with answers.