Cost-Effectiveness Analysis of Eladocagene Exuparvovec-tneq for Aromatic L-Amino Acid Decarboxylase Deficiency (AADC-D) and Comparison with Other Rare Disease One-Time Treatments in the United States

Author(s)

Berrin Monteleone, MD1, Rongrong Zhang, MSc2, Paul Castellano, Jr., MBA3, Thomas OConnell, BA, MA4, Yixi Teng, MS4, Ioannis Tomazos, MBA, PhD3;
1NYU Long Island School of Medicine, New York, NY, USA, 2PTC Therapeutics Sweden AB, Askim, Sweden, 3PTC Therapeutics Inc, Warren, NJ, USA, 4Medicus Economics, Boston, MA, USA

Presentation Documents

OBJECTIVES: AADCd is a rare, infantile-onset, neurometabolic disorder, characterized by motor dysfunction and developmental delays. In November 2024, the one-time gene therapy eladocagene exuparvovec-tneq received accelerated approval from the US Food and Drug Administration. This study aimed to assess the cost-effectiveness of eladocagene exuparvovec-tneq compared to best supportive care (BSC) from a US payer perspective.
METHODS: Multi-state modeling was implemented to track disease progression from a “no motor function” health state to achievement of meaningful improvements in motor function, as measured by: (1) multiples of the meaningful score difference (MSD) for Total Peabody Developmental Motor Scales-Second Edition (PDMS-2) score (previously estimated at 40 points); and (2) motor milestones (full head control, sitting unassisted, standing with support, walking with assistance). Three single-arm, open-label eladocagene exuparvovec-tneq trials informed clinical inputs. Health-state utilities were from a US time-trade-off study that valued the quality-of-life impact of AADCd by motor-milestone state. Costs and quality-adjusted life years (QALYs) were estimated undiscounted and discounted (at 3% annually). Results were compared to 16 CEAs of 33 other rare disease and/or one-time treatments conducted by the Institute for Clinical and Economic Review (ICER) and compared to results for eladocagene exuparvovec-tneq vs. BSC.
RESULTS: Compared to BSC, incremental QALYs for eladocagene exuparvovec-tneq were 43.87 (undiscounted) and 20.83 (discounted) based on multiples of the MSD for Total PDMS-2, and 38.36 (undiscounted) and 18.44 (discounted) based on motor milestone achievement. The incremental cost-per-QALY ranged from $99,682-$112,744 (undiscounted) and $199,007-$224,104 (discounted). In CEAs of other treatments reported by ICER, only 5 of 30 reporting a modified societal perspective achieved cost-per-QALY ≤$250,000, as was observed for eladocagene exuparvovec-tneq vs. BSC.
CONCLUSIONS: Eladocagene exuparvovec-tneq has substantial QALY gains compared to BSC and demonstrates superior cost-effectiveness relative to other rare-disease and one-time treatments. These findings highlight the transformative impact of this gene therapy for treating AADCd.

Conference/Value in Health Info

2025-05, ISPOR 2025, Montréal, Quebec, CA

Value in Health, Volume 28, Issue S1

Code

EE402

Topic

Economic Evaluation

Disease

SDC: Rare & Orphan Diseases

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