Agios Pharmaceuticals has received orphan drug designation from the US Food and Drug Administration (FDA) for its investigational medicine AG-348 to treat pyruvate kinase (PK) deficiency, a rare form of haemolytic anemia.
PK deficiency is caused by mutations that affect the activity of the metabolic enzyme pyruvate kinase-R (PKR), the form of pyruvate kinase that is present in red blood cells.
The AG-348 is a first-in-class and orally available activator of PKR enzymes.
“PK deficiency can result in lifelong medical problems and is an example of our focus on underserved diseases with significant medical needs.”
Agios Pharmaceuticals chief medical officer Dr Chris Bowden said: “We are pleased to achieve another milestone in the clinical programme for AG-348, the first medicine in development designed to treat the underlying cause of PK deficiency.
“PK deficiency can result in lifelong medical problems and is an example of our focus on underserved diseases with significant medical needs.”
According to the company, the drug reached primary endpoints in two Phase I healthy volunteer trials, including a single ascending dose study and multiple ascending dose study.
In December 2014, Agios also presented data at the 54th Annual Meeting of the American Society of Haematology (ASH) that provided early proof-of-mechanism for AG-348.
The company intends to start a Phase II clinical trial in patients with PK deficiency in the first half this year, based on results presented at ASH.
Agio is also planning to release final results of Phase I multiple ascending dose study at a medical conference being held at the middle of this year.
In addition, the company is currently conducting a natural history study of PK deficiency and is planning to report initial data from this study at the same medical conference.
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