Early last week, Agios Pharmaceuticals (“Agios”) announced that its treatment Mitapivat received Orphan Drug designation. This orally administered therapy is a pyruvate kinase R (PKR) activator. As Agios has long worked in cellular metabolism, and used its insights to generate new therapies for rare cancers and genetic conditions, this therapy aligns with the company’s goals. As there are few adequate treatments for SCD, Mitapivat receiving Orphan Drug status is a huge step forward.

Mitapivat

According to the FDA, Orphan Drug status is granted under the Orphan Drug Act (ODA), which:

provides for granting special status to a drug or biological product (“drug”) to treat a rare disease or condition upon request of a sponsor.

A rare disease is considered one affecting under 200,000 American citizens. Once granted Orphan Drug designation, the drug developer also receives benefits such as market exclusivity if the drug is approved, application fee exemption, tax credits, and increased communication with the FDA. In addition to receiving Orphan Drug designation for SCD, Mitapivat also received the status for the treatment of thalassemia and pyruvate kinase deficiency.

Currently, researchers are analyzing this therapy as a therapeutic option for those with SCD. By increasing adenosine triphosphate, an organic compound that promotes various cell processes, researchers believe Mitapivat could prevent red blood cells from becoming sickled. To support their claims, Agios shared proof-of-concept data in June. Additionally, Agios will present updated data at the virtual American Society of Hematology Annual Meeting, which will take place in December.

Sickle Cell Disease (SCD)

Caused by gene mutations, particularly in the gene which produces hemoglobin, sickle cell disease (SCD) is a group of hematological disorders characterize by malformed red blood cells. Rather than producing healthy cells, red blood cells in patients with SCD are sickle-shaped. Unfortunately, these sickle cells cause blockages and prevent adequate blood flow. Typically, people of African-American descent are at a greater risk of developing SCD. Symptoms include:

• Joint pain
• Jaundice (yellowing of the skin and eyes)
• Poor or delayed growth
• Swelling of the hands and feed
• Frequent infection
• Pain crises, or periodic episodes of intense pain
• Bone, joint, skin, spleen, brain, eye, liver, kidney, and heart damage
• Dizziness
• Bloody urine

Learn more about SCD here.