Pyruvate Kinase Deficiency Global Longitudinal Registry
This study is an observational (ie, non-interventional), longitudinal, multicenter, global registry for patients with pyruvate kinase (PK) deficiency, a rare non-spherocytic hemolytic anemia.
This Registry will be open for enrollment for 7 years and all enrolled participants will be followed prospectively for a minimum of 2 years, and up to 9 years.
Data will be collected from participating Registry Physicians, participants, and, where appropriate, parents/guardians who have provided informed consent or assent (where relevant) and authorization pursuant to applicable laws and regulations.
Data should include demographic, clinical, and treatment data; and other data of relevance to the management of patients with PK deficiency. Annual assessments are strongly encouraged to enhance longitudinal understanding of PK deficiency; however, no specific assessments are set or required by this Registry protocol.
Secondary Outcome Measures :
- Severity of Disease [ Time Frame: 9 years ]To understand the prevalence, incidence, and severity of complications associated with PK deficiency
- Disease Impact on Pregnancy [ Time Frame: 9 years ]To evaluate pregnancy outcomes
- Clinical Management Assistance [ Time Frame: 9 years ]To provide a source of longitudinal data to assist physicians with clinical management of individual patients
- Global Repository [ Time Frame: 9 years ]To act as a global repository for potential data from other properly consented PK deficiency-related studies to support aggregate and comparative analyses
Other Outcome Measures:
- Genetic [ Time Frame: 9 years ]To examine a possible correlation between PKLR genotype and PK deficiency clinical phenotype