(231) Real-world impact on work and school among adults with pyruvate kinase deficiency in the United States

Background: : Pyruvate kinase (PK) deficiency is a rare, inherited, autosomal recessive enzyme disorder characterized by chronic hemolytic anemia, causing complications and reduced quality of life. Though data are limited, patients have reported daily social and physical limitations, including the inability to reach full potential at work or school.

Objective: : To describe the lifetime impact of PK deficiency on work and school among adults in a real-world setting.

Methods: : Consenting adults (≥18 yrs) with PK deficiency in the US were recruited between May and Sep 2024 to participate in this observational study that used a cross-sectional survey about their disease, its management, and impact on their lives, including questions about its impact on lifetime work and school performance. Patients enrolled in a mitapivat clinical trial were excluded. Data were summarized descriptively.

Results: : Seventeen patients enrolled in the study, of whom 16 completed the survey; 71% (12/17) were female and 76% (13/17) were White. Median (min, max) age at enrollment was 47 (20, 63) yrs. Overall, 38% of patients (6/16) were receiving disability allowance, 31% (5/16) worked full time, 13% (2/16) were retired, 13% (2/16) were not working but seeking employment, and 6% (1/16) were working part time.

The majority, 69% (11/16), of patients reported negative impacts of PK deficiency on work, including reduced performance (38%, 6/16), taking on fewer responsibilities than desired (38%, 6/16), and unplanned time off (31%, 5/16). Among the 6 with reduced performance, PK deficiency symptoms with negative impact included fatigue (100%), brain fog/impaired concentration (83%), memory difficulties (33%), and appearance causing unwanted attention (33%).

The majority, 63% (10/16), of patients also reported their schooling had been negatively impacted by PK deficiency, including reduced performance (38%, 6/16), unplanned time off from school (25%, 4/16), and reduced study duration (25%, 4/16). Among the 10 with negatively impacted schooling, PK deficiency symptoms included fatigue (70%), brain fog/impaired concentration (70%), memory difficulties (50%), and appearance causing unwanted attention (40%).

Conclusions: : In this observational, small real-world study, most patients reported negative impacts of PK deficiency on both work and school. Fatigue and brain fog/impaired concentration markedly contributed to decreases in work or school performance. PK deficiency symptoms also contributed to unplanned time off from work and school.

Sponsorship:: Agios Pharmaceuticals, Inc.