ACTIVATE and ACTIVATE-T Clinical Trials

Pyruvate Kinase Deficiency is a manageable disease; however, there are currently no approved medicines that treat the underlying cause of the disorder. Due to a deficiency in the enzyme, pyruvate kinase, people with pk deficiency are anemic, which means they have a reduced number of healthy red blood cells. At this time Agios Pharmaceuticals is conducting its ACTIVATE and ACTIVATE – T Clinical Trials for the oral medication, AG-348.  This therapy has been developed as a potential treatment for PK Deficiency.  The study is being conducted to determine the safety and effectiveness of AG-348. To learn more about these studies visit Agios’s Activate Clinical Trial website.

“The decision to participate in a clinical trial is an IMPORTANT one. ASK QUESTIONS! Read about participating in clinical research. Talk to researchers, physicians, family members, and friends to help decide if a trial is right for you.”

PKD Clinical Trial Participant

For updated information on pyruvate kinase deficiency clinical studies, go to

Watch this video to learn more about what a clinical trial is and how it works. 

Part of the Roche Drawn to Science video Series

Natural History Study

The purpose of this study is to describe the symptoms, treatments, and complications related to Pyruvate Kinase deficiency (PKD). Patients of all ages are eligible to enroll in the study.  Participants will be asked to fill in questionnaires regarding their quality of life. In addition, the study team will collect past medical history and routine clinical care information. Those who are interested in participating or want more information about this study can contact the following researchers:

Dr. Rachael Grace
Boston Children’s Hospital
Phone: (617) 919-2144

You may go to the following link to get more information about this study:
Pyruvate Kinase Deficiency Natural History Study(PKD NHS)


Dr. Eduard J van Beers
Van  Creveldkliniek
University Medical Centre
Utrecht, the Netherlands
T: +31 88 75 584 50
F: +31 88 75 554 38

ForGeTPKD – gene therapy

Apart from the activities conducted by Agios Pharmaceuticals to develop a drug treatment for PKD, alternative strategies are also being explored in the field. One of these alternative ways is gene therapy. Gene therapy basically involves correction of the defect at the genetic level in the right cells (hematopoietic stem cells). This has the potential of curing the patient with a hematological disorder, such as PKD. This sounds simple, but in fact it is technically challenging. Nevertheless, a lot of progress has been made over the years for a number of hematological diseases such as sickle cell anemia and thalassemia.
Dr. José Carlos Segovia is a Spanish investigator who has focused his research on developing methods to cure PKD by gene therapy. His approach recently received the Orphan Drug designation for the treatment of PKD by the European Community (EU/3/14/1130). This means that his approach is ready for clinical trial. Together with Dr. Segovia and many other European clinicians and researchers in the field of PKD they have formed a EU consortium.

Dr. José Carlos Segovia
Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)
Avda. Complutense 22 28040 Madrid • Spain