HEALTHCARE RESOURCE DRIVERS AMONG MCT8 DEFICIENCY PATIENTS IN THE UNITED STATES
Author(s)
Eros Papademetriou, MA1, Eric C. Faulkner, MPH2, Ann-Marie Redmond, MBA3;
1Putnam Associates, Salt Lake City, UT, USA, 2Putnam Associates, Durham, NC, USA, 3Egetis Therapeutics US Inc., Head Market Access North America, Whitehouse Station, NJ 08889-3954, NJ, USA
1Putnam Associates, Salt Lake City, UT, USA, 2Putnam Associates, Durham, NC, USA, 3Egetis Therapeutics US Inc., Head Market Access North America, Whitehouse Station, NJ 08889-3954, NJ, USA
OBJECTIVES: MCT8 deficiency is a rare, X-linked, devastating life-shortening disorder caused by pathogenic mutations in the SLC16A2 gene that encodes the thyroid hormone transporter MCT8. There are currently no pharmacological treatments approved for this disease in the U.S. Initial symptoms include hypotonia and failure to thrive with neurodevelopmental impairment and symptoms related to thyrotoxicosis often resulting in early mortality. While MCT8 deficiency requires high levels of care, there is little research characterizing healthcare resource use. Our aim is to evaluate healthcare resource drivers as a key step in understanding healthcare resource implications of MCT8 deficiency using U.S.-based real-world data.
METHODS: This interim retrospective analysis identified 44 patients in total (15 from the NorstellaLinQ US Real-World Database and 29 with an SLC16A2 mutation from GeneDx) with MCT8 deficiency diagnosed between January 1, 2017, and September 30, 2024. The proportion of patients associated with key resource drivers are presented.
RESULTS: The mean (SD) patient age was 5.9 (6.9) years, ranging from birth to 25 years old. Patients had a mean follow-up of 72.4 (20.8) months. 93.1% of patients had a weight related claim, including failure to thrive (72.7%), underweight (79.5%), and home-based interventions (22.7%). Cardiovascular claims occurred in 63.6% of patients including tachycardia (34.1%), and any arrhythmia (40.9%). Infections were frequent (90.9%), including sepsis (15.9%). Durable medical equipment was common (93.1%), including mobility (88.6%), respiratory (59.1%), and feeding devices (65.9%).
CONCLUSIONS: To our knowledge, this is the first study to characterize healthcare resource drivers in MCT8 deficiency. Almost three quarters of patients had failure to thrive. more than one-third were tachycardic, and most had the need for a mobility device. Our findings provide an initial evidence base to inform future economic evaluations, highlighting the significant need for interventions to improve health outcomes. Next steps will include a more comprehensive healthcare resource use analysis.
METHODS: This interim retrospective analysis identified 44 patients in total (15 from the NorstellaLinQ US Real-World Database and 29 with an SLC16A2 mutation from GeneDx) with MCT8 deficiency diagnosed between January 1, 2017, and September 30, 2024. The proportion of patients associated with key resource drivers are presented.
RESULTS: The mean (SD) patient age was 5.9 (6.9) years, ranging from birth to 25 years old. Patients had a mean follow-up of 72.4 (20.8) months. 93.1% of patients had a weight related claim, including failure to thrive (72.7%), underweight (79.5%), and home-based interventions (22.7%). Cardiovascular claims occurred in 63.6% of patients including tachycardia (34.1%), and any arrhythmia (40.9%). Infections were frequent (90.9%), including sepsis (15.9%). Durable medical equipment was common (93.1%), including mobility (88.6%), respiratory (59.1%), and feeding devices (65.9%).
CONCLUSIONS: To our knowledge, this is the first study to characterize healthcare resource drivers in MCT8 deficiency. Almost three quarters of patients had failure to thrive. more than one-third were tachycardic, and most had the need for a mobility device. Our findings provide an initial evidence base to inform future economic evaluations, highlighting the significant need for interventions to improve health outcomes. Next steps will include a more comprehensive healthcare resource use analysis.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
EE487
Topic
Economic Evaluation
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies
Disease
SDC: Diabetes/Endocrine/Metabolic Disorders (including obesity), SDC: Rare & Orphan Diseases