AG-348 in Regularly Transfused Adult Subjects with PK Deficiency
Research type
Research Study
Full title
An Open-Label Study to Evaluate the Efficacy and Safety of AG-348 in Regularly Transfused Adult Subjects With Pyruvate Kinase (PK) Deficiency
IRAS ID
237623
Contact name
Mark Layton
Contact email
Sponsor organisation
Agios Pharmaceuticals, Inc
Eudract number
2017-003803-22
Duration of Study in the UK
2 years, 4 months, 28 days
Research summary
AG-348 is being studied as a possible treatment for pyruvate kinase deficiency, a rare blood disease. It is a genetic disease which means that it may be transferred from a parent to a child.
People with pyruvate kinase deficiency have a deficiency in a specific protein (or enzyme, called “pyruvate kinase R”, PKR) that is needed to maintain healthy red blood cells. Red blood cells are essential for carrying oxygen to the tissues throughout the body and keeping us healthy. Because of this deficiency, patients with pyruvate kinase deficiency have fewer healthy red blood cells (a condition known as anaemia) which causes fatigue, jaundice (a yellowing of the skin and the white of the eye) and sometimes difficulty breathing. Patients may require regular blood transfusions. There is no known cure for pyruvate kinase deficiency.
The study drug being tested in this study, AG-348, is a chemical (synthetic substance) that attaches to the PKR protein to increase the activity of this protein which allows the red blood cells to make more energy therefore helping the body to maintain normal red blood cells. In an ongoing study in patients with PK deficiency who are not regularly transfused, approximately 40% of patients had clinically meaningful and sustained increases in haemoglobin, the main component of your blood cells. AG-348 is a tablet taken by mouth.REC name
West Midlands - Edgbaston Research Ethics Committee
REC reference
18/WM/0022
Date of REC Opinion
3 Mar 2018
REC opinion
Further Information Favourable Opinion