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The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study

This study uses real world data to examine healthcare utilization relative to timing of diagnosis in seven RDs based on anticipated costs, evidence for diagnostic odyssey, and potential for new therapies in adrenoleukodystrophy (ALD), infantile-onset and late-onset Pompe disease, Severe Compromised Immunodeficiency (SCID), Fragile X Syndrome (FXS), Duchenne Muscular Dystrophy (DMD), Wilson Disease, and generalized Myasthenia Gravis (gMG). In the three diseases (ALD, PD, SCID) where routine newborn screening has been implemented in some or all states, timely diagnosis can eliminate the diagnostic odyssey and its associated medical costs prior to diagnosis and provide the opportunity for optimal intervention and improved health outcomes.

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Disclaimer: This document is the work product of the N=1 Collaborative (the “N1C”), and is offered as an example only. The N1C is not providing legal or regulatory advice for N=1 trials. This document should not be construed as legal or regulatory advice for any particular purpose. Any future use of this document should be tailored to specific trials based, for example, on pre-clinical data ASO chemistry and mechanism, patient disease, and evolving body of knowledge, and where appropriate, should separately be subjected to legal review.


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