The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design
Issued Date
2023-03-23
Resource Type
eISSN
20446055
Scopus ID
2-s2.0-85150929806
Pubmed ID
36958777
Journal Title
BMJ Open
Volume
13
Issue
3
Rights Holder(s)
SCOPUS
Bibliographic Citation
BMJ Open Vol.13 No.3 (2023)
Suggested Citation
Grace R.F., Van Beers E.J., Vives Corrons J.L., Glader B., Glenthøj A., Kanno H., Kuo K.H.M., Lander C., Layton D.M., Pospíšilová D., Viprakasit V., Li J., Yan Y., Boscoe A.N., Bowden C., Bianchi P. The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design. BMJ Open Vol.13 No.3 (2023). doi:10.1136/bmjopen-2022-063605 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/82357
Title
The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design
Author's Affiliation
Agios Pharmaceuticals
Stanford University School of Medicine
Tokyo Women's Medical University
Hammersmith Hospital
University of Toronto
Van Creveldkliniek
Dana-Farber Cancer Institute
Mahidol University
Fakultní Nemocnice Olomouc
Ospedale Maggiore Policlinico Milano
Rigshospitalet
Universitat de Barcelona
Thrive with Pk Deficiency
Stanford University School of Medicine
Tokyo Women's Medical University
Hammersmith Hospital
University of Toronto
Van Creveldkliniek
Dana-Farber Cancer Institute
Mahidol University
Fakultní Nemocnice Olomouc
Ospedale Maggiore Policlinico Milano
Rigshospitalet
Universitat de Barcelona
Thrive with Pk Deficiency
Other Contributor(s)
Abstract
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.