The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry : rationale and study design
Grace, Rachael F. (Dana-Farber/Boston Children's Cancer and Blood Disorders Center)
Van Beers, Eduard J. (University of Utrecht)
Vives Corrons, Joan Lluís (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Glader, Bertil (Stanford University School of Medicine)
Glenthøj, Andreas (Copenhagen University Hospital - Rigshospitalet)
Kanno, Hitoshi (Department of Transfusion Medicine and Cell Processing. Tokyo Women's Medical University)
Kuo, Kevin H M (University of Toronto)
Lander, Carl (Hammersmith Hospital (Londres))
Pospíšilová, Dagmar (Department of Pediatrics. Palacky University and University Hospital)
Viprakasit, Vip (Mahidol University)
Li, Junlong (Agios Pharmaceuticals)
Yan, Yan (Agios Pharmaceuticals (Estats Units d'Amèrica))
Boscoe, Audra N. (Agios Pharmaceuticals (Estats Units d'Amèrica))
Bianchi, P. (Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico (Itàlia))

Date:	2023
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.
Note:	The authors would like to thank the patients, their families and all investigators involved in this registry. The authors acknowledge the contributions from Bryan McGee and Jean Williams (Agios Pharmaceuticals) for their roles in data analysis, Karen Anderson and Bryan Jones (formerly of Agios Pharmaceuticals) for their role in the creation of the Peak Registry and Amber Bickford (Agios Pharmaceuticals) for her role in the study design and operations. Medical writing assistance and editorial support was provided by Alex Watson, MSc, of Adelphi Communications (Macclesfield, UK) and was funded by Agios Pharmaceuticals, according to Good Publication Practice guidelines.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Published in:	BMJ open, Vol. 13 Núm. 3 (23 2023) , p. e063605, ISSN 2044-6055

DOI: 10.1136/bmjopen-2022-063605
PMID: 36958777

10 p, 489.9 KB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP) > Josep Carreras Leukaemia Research Institute
Articles > Research articles
Articles > Published articles