Patients from the general population without hemolytic anemia were matched 10 to 1 to patients with PK deficiency on the basis of age, gender, and year of enrollment in the PK Deficiency Natural History Study (NHS).*
The Pyruvate Kinase Deficiency Natural History Study was funded by Agios Pharmaceuticals.
ERT=ever regularly transfused, NRT=never regularly transfused, NT=never transfused.
* Data derived for the PK deficiency population drawn from the Pyruvate Kinase Deficiency NHS. To contextualize the findings, the frequencies of select conditions were compared with an age- and gender-matched cohort of individuals from the insured, general US population who did not have any hemolytic anemia diagnoses and had ≥5 years of continuous enrollment in the Truven MarketScan administrative claims database. The mean age for patients ERT (n=65) was 34.2 years, NRT (n=30) was 39.5 years, and NT (n=27) was 37.2 years at enrollment.2
The disease has affected my career. I spent 11 years to get a PhD in nutrition…My heart wants more but body can’t handle it.
Tamara S., Minnesota
References: 1. Zanella A, Fermo E, Bianchi P, Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br J Haematol. 2005;130(1):11-25. 2. Data on file. Agios Pharmaceuticals, Inc. Cambridge, MA. 3. Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from Pyruvate Kinase Deficiency Natural History Study. Blood. 2018;131(20):2183-2192. 4. Grace RF, Cohen J, Egan S, et al. The burden of disease in pyruvate kinase deficiency: patients’ perception of the impact on health-related quality of life. Eur J Haematol. 2018;101(6):758-765. 5. Grace RF, Mark Layton D, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019;184(5):721-734. 6. Al-Samkari H, van Beers EJ, Kuo KHM, et al. The variable manifestations of disease in pyruvate kinase deficiency and their management [published online ahead of print March 12, 2020]. Haematologica. 2019;2019:240846. doi:10.3324/haematol.2019.240846. 7. Grace RF, Zanella A, Neufeld EJ, et al. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol. 2015;90(9):825-830. 8. Bianchi P, Fermo E, Glader B, et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol. 2019;94(1):149-161 [supplementary online material]. 9. National Organization for Rare Disorders. Voice of the Patient Report: Pyruvate Kinase Deficiency. Washington, DC: National Organization for Rare Disorders; 2020.