PEAK ePRO
Research type
Research Study
Full title
Pyruvate Kinase Deficiency Global Longitudinal Registry: Patient-Reported Outcomes
IRAS ID
300724
Contact name
Mark Layton
Contact email
Sponsor organisation
Agios Pharmaceuticals, Inc.
Duration of Study in the UK
1 years, 8 months, 1 days
Research summary
Pyruvate kinase deficiency (PKD) is a rare genetic disorder characterised by haemolytic anaemia, the premature destruction of red blood (RBCs). PKD affects both adults and children, and severity can range from mild to serious and life threatening.
PKD is caused by a deficiency in a specific protein called pyruvate kinase R. This protein is responsible for maintaining health of RBCs, which are required for carrying oxygen to tissues throughout the body. This deficiency causes PKD patients to have fewer healthy RBCs which leads to fatigue, dizziness and sometimes difficulty in breathing. Current treatments of PKD include blood transfusions, removal of the spleen and other interventions to address the symptoms of the condition. However, there is currently no approved therapy to treat the underlying cause of the condition.
This study is a non-interventional study sponsored by Agios Pharmaceuticals, Inc. It will involve approximately 75 participants globally who will be followed prospectively for up to 96 weeks. Participants will answer questionnaires about their daily living and fatigue once every 3 months via a validated electronic patient-reported outcomes internet application.
The aim of the study is to improve the understanding of the health-related quality of life and the disease burden of adults with PKD who are receiving routine clinical care. Collecting this information will help researchers gain a better understanding of what care is needed for PKD patients and may assist them in developing new treatments for PKD.
REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
21/YH/0199
Date of REC Opinion
23 Sep 2021
REC opinion
Further Information Favourable Opinion