To evaluate models of geographic burden in accessing expert care for a rare neurological disorder and possible solutions to mitigate that burden.

Most rare diseases are genetic with onset in childhood; many cause progressive neurological deterioration. One such disease is the NCLs. Access to expert care for these disorders presents challenges due to the scarcity of disease-specific expertise and potential mismatch between patient and expert location. We hypothesized that access to expertise would require substantial travel.

We investigated the distribution of NCL families using a convenience sample of data from two NCL contact registries in the US. We used ArcGIS to develop maps using zip codes from families in relation to 1) BDSRA-designated centers of excellence (known experts), 2) cerliponase alfa infusion centers (experts in CLN2 disease), and 3) pediatric neurology residency programs (possible NCL experts). We used spatial analysis to determine the distance and driving time to specialists using these 3 models.

Based on 685 cases, 7% of individuals lived within a 3-hour drive of a center of excellence, 59% lived within a 3-hour drive of a cerliponase alfa infusion center, and 88% lived within a 3-hour drive of a pediatric neurology training program. The median driving time to a center of excellence was 8 hours, to an infusion center was 1.8 hours, and to a pediatric neurology program was 1.2 hours. There were no obvious clusters of cases within the United States. The geographic density of NCL families appeared to parallel the US population distribution density.