Peak Registry
Research type
Research Study
Full title
Pyruvate Kinase Deficiency Global Longitudinal Registry
IRAS ID
243300
Contact name
David Mark Layton
Contact email
Sponsor organisation
Agios Pharmaceuticals, Inc.
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
8 years, 9 months, 1 days
Research summary
This is an observational, global registry study for patients diagnosed with pyruvate kinase deficiency (PKD). The aim of the study is to collect standard of care data to further understand PKD. This information may help physicians understand more about this disease and how to treat it.
PKD is a rare genetic blood disease which is caused by a deficiency in pyruvate kinase R. This is a protein in the body which is required to keep red blood cells healthy. This deficiency causes impaired development and a reduction in red blood cells. Patients (both children and adults) with this disease can experience symptoms of anaemia, pigmented gallstones and iron overload due to repeated blood transfusions. There is currently no direct treatment for PKD, only supportive care which includes blood transfusions and partial or full removal of the spleen (splenectomy).
Approximately 500 participants of all ages, with confirmed diagnoses of PK deficiency, will participate worldwide, with approximately 5-10 participants in the UK. Participants will visit the site to enroll in the study and sign the informed consent form. There is no investigational medicines or study specific procedures in this registry. The registry will only collect past and current medical history information, including PKD disease history, treatments and outcomes, and variability in clinical care and disease burden.
Patients will continue to visit their treating doctor as part of their standard care for PKD (recommended at least annually). The total duration of data collection for each participant could last between 2-9 years.
REC name
London - Surrey Research Ethics Committee
REC reference
18/LO/1627
Date of REC Opinion
16 Nov 2018
REC opinion
Further Information Favourable Opinion