The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design.

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 t

SUBMITTER: Grace RF 

PROVIDER: S-EPMC10040033 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature