PEAK registry

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  :

  1. Severity of Disease [ Time Frame: 9 years ]To understand the prevalence, incidence, and severity of complications associated with PK deficiency
  2. Disease Impact on Pregnancy [ Time Frame: 9 years ]To evaluate pregnancy outcomes
  3. Clinical Management Assistance [ Time Frame: 9 years ]To provide a source of longitudinal data to assist physicians with clinical management of individual patients
  4. 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:

  1. Genetic [ Time Frame: 9 years ]To examine a possible correlation between PKLR genotype and PK deficiency clinical phenotype

Contacts

Contact: Medical Information833-228-8474MedInfo@agios.com
https://clinicaltrials.gov/ct2/show/NCT03481738