OBJECTIVES: Innovations in regenerative therapies in the past decade have provided much-needed treatment options for rare neurodegenerative diseases of infancy and early childhood that were once considered untreatable. Although challenges in evaluating rare disease treatments using cost-effectiveness analyses (CEAs) have been reported widely, strategies for overcoming specific challenges in rare developmental disorders have not been well established.

METHODS: A targeted review was conducted to summarize approaches used in CEAs for treatments for rare neurodegenerative diseases in infancy and early childhood. The search strategy was designed to identify published CEAs, models evaluated by the National Institute for Health and Care Excellence, and models published by the Institute for Clinical and Economic Review in the past 5 years.

RESULTS: We selected 6 key economic evaluations across 5 rare neurodegenerative diseases of infancy and early childhood for review. All 6 evaluations utilized cohort-based models that incorporated patients’ survival; 5 included ventilatory status. All models incorporated motor milestones into the model structure, with 2 of 6 including additional developmental milestones such as cognitive functioning or language development. Expert guidance supported long-term efficacy durability assumptions in all cases. Across all 6 models, data on costs and utility weights associated with health states were limited, with 3 studies relying on a vignette study to elicit utility values. However, the majority of reviewed studies incorporated the impact on indirect costs to caregivers (5/6) and caregiver disutility (4/6).

CONCLUSIONS: This review identified challenges in modeling comprehensive, clinically important aspects of health outcomes in CEAs of treatments for rare pediatric neurodegenerative diseases. Outcomes beyond motor milestones were rarely modeled despite the fact that social, cognitive, and emotional domains are key domains in major developmental assessment tools. Further research should strive to establish methods for assessing the effects of improving multidimensional aspects of developmental outcomes.