INTRODUCTION: Pyruvate kinase (PK) deficiency is a rare, under-recognised, hereditary condition that leads to chronic haemolytic anaemia and potentially serious secondary complications, such as iron overload, cholecystitis, pulmonary hypertension and extramedullary haematopoiesis. It is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the PKLR gene. Due to its rarity and clinical heterogeneity, information on the natural history and long-term clinical course of PK deficiency is limited, presenting major challenges to patient management, the development of new therapies and establishing disease-specific treatment recommendations. The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry is an initiative to address the gaps in the knowledge of PK deficiency. This manuscript describes the objectives, study design and methodology for the Peak Registry. METHODS AND ANALYSIS: The Peak Registry is an observational, longitudinal, global registry of adult and paediatric patients with a genetically confirmed diagnosis of PK deficiency. The Peak Steering Committee is composed of 11 clinicians and researchers with experience in the diagnosis and management of PK deficiency from 10 countries, a patient representative and representatives from the sponsor (Agios Pharmaceuticals). The registry objective is to foster an understanding of the longitudinal clinical implications of PK deficiency, including its natural history, treatments and outcomes, and variability in clinical care. The aim is to enrol up to 500 participants from approximately 60 study centres across 20 countries over 7 years, with between 2 and 9 years of follow-up. Data will include demographics, diagnosis history, genotyping, transfusion history, relevant clinical events, medications, emergency room visits and hospitalisations. ETHICS AND DISSEMINATION: Registry protocol and informed consent forms are approved by institutional review boards/independent ethics committees at each study site. The study is being conducted in accordance with the Declaration of Helsinki. Registry data will be published in peer-reviewed journal articles and conference publications. TRIAL REGISTRATION NUMBER: NCT03481738.

Agios Pharmaceuticals Inc Cambridge Massachusetts USA

Center for Benign Haematology Thrombosis and Haemostasis Van Creveldkliniek University Medical Center Utrecht University of Utrecht Utrecht Netherlands

Dana Farber Boston Children's Cancer and Blood Disorders Center Boston Massachusetts USA

Danish Red Blood Cell Center Department of Hematology Copenhagen University Hospital Rigshospitalet Copenhagen Denmark

Department of Pediatrics Palacky University and University Hospital Olomouc Czech Republic

Department of Transfusion Medicine and Cell Processing Tokyo Women's Medical University Tokyo Japan

Division of Hematology University of Toronto Toronto Ontario Canada

Hammersmith Hospital Imperial College Healthcare NHS Foundation Trust London UK

Hematology Unit Pathophysiology of Anemias Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

Institute for Leukaemia Research Josep Carreras ENERCA Coordinator University of Barcelona Barcelona Spain

Siriaj Hospital Mahidol University Salaya Nakhon Pathom Thailand

Stanford University School of Medicine Stanford California USA

Thrive with PK Deficiency Bath UK

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