Original Research
Tuesday, November 14, 2023
08:30 AM–10:00 AM
Abstract
Introduction: The availability of FDA approved treatments for patients diagnosed with rare genetic metabolic disorders has expanded within the last decade. The complexity of medication use in this patient population has not previously been described.
Research Question or Hypothesis: The primary objective was to characterize the complexity of medication use in patients with metabolic genetic disorders.
Study Design: Retrospective cross-sectional study
Methods: Patients with a confirmed diagnosis of a metabolic genetic disorder were included. Pregnant patients were excluded. Data was collected via manual chart review and consisted of diagnosis, medication use and laboratory data. The primary endpoint was medication complexity defined as use of specialty pharmacy, manipulation of dosage forms, and routine laboratory monitoring requirements. Costs were determined using the FDA RedBook. Descriptive statistics were utilized to characterize the data using Excel.
Results: Of 225 patients screened, 152 were included. Most patients were less than 21 years of age (n=93, 61.2%) and phenylketonuria was the most frequent diagnosis (n=63, 41.4%). 95 patients required 110 medications for treatment of their metabolic genetic disorder. 77 medications (70%) required use of a specialty pharmacy and 69 medications (62.7%) required prior authorization. Enteral administration was most common (n=80, 72.7%) and of these 64.6% (n=51/79) required manipulation prior to administration. Injectable medication dosage forms included bulk vials (n=5, 4.5%), prefilled syringes (n=10, 9.1%), and intravenous infusions (n=15, 13.6%). Laboratory testing related to medication efficacy and safety was required in 90 patients with an observed compliance of 81.1% to any lab draw. The average annual cost per medication exceeded $100,000 in 47.2% of medications prescribed (n=51/108).
Conclusion: This study demonstrated the complexity of medications utilized for treatment of metabolic genetic disorders with an observed majority of medications requiring additional steps for acquisition, administration, and monitoring. The role of the pharmacist should be explored to optimize the use of complex, high-cost therapy in this patient population.
Presenting Author
Mary Riedy PharmD, BCPPSUniversity at Buffalo
Authors
Jessica Briggs RD
UBMD Pediatrics
Taosheng Huang MD, PhD
University at Buffalo