Ronald Martell, President, and CEO of Jasper Therapeutics, gives an overview of Fanconi anemia.
As Mr. Martell explains, Fanconi anemia is a rare blood disorder that is often associated with a progressive deficiency of all bone marrow production of blood cells, red blood cells, white blood cells, and platelets. The disorder can also cause the bone marrow to make abnormal blood cells. It is usually inherited as an autosomal recessive genetic disorder, but X-linked inheritance is also possible. Birth defects, such as small size, abnormal thumbs and/or radial bones, skin pigmentation, small heads, small eyes, abnormal kidney structures, and cardiac and skeletal anomalies, can aid early diagnoses. Individuals with Fanconi anemia have an increased risk of developing acute myeloid leukemia (AML), or tumors of the head, neck, skin, gastrointestinal system, or genital tract. Treatment of Fanconi anemia may include blood transfusions or medicine to create more red blood cells, but a hematopoietic stem cell transplant (HSCT) is the only curative option. However, HSCT usually requires the patient to undergo chemotherapy to eliminate their own stem cells before receiving the foreign, healthy stem cells. In addition, graft-versus-host disease is a concern with HSCT.
Fortunately, data from the company’s phase 1/2 study of JSP191, a humanized monoclonal antibody, as a conditioning agent in the treatment of Fanconi anemia were recently presented at the Inborn Errors Working Party (IEWP) Annual Conference 2022. The data presented is from the first two patients receiving JSP191 and suggest that a conditioning regimen that includes JSP191 has the potential to achieve successful donor transplant with minimal JSP191-related adverse events.
To learn more about Fanconi anemia and other rare blood disorders, visit checkrare.com/diseases/blood-diseases/
