Death Certificate and Disease Registry Data for Epidemiological Description of Leukodystrophy Diseases

Principal Investigator: Randy Carter, PhD

Funding Agency: Hunter's Hope Foundation

Period: 01/01/16-12/31/16

Abstract: Together with the director of the New York State Department of Health Early Intervention Program, the director of the Institute for Child Development at the University at Binghamton, and colleagues in the Population Health Observatory, Randy Carter, PhD, built the Early Childhood Outcomes Data System. The system is now being used to evaluate the impact of early intervention services on children with autism spectrum disorder and their families.

Little is known about the incidence and prevalence of many leukodystrophy diseases. Because these diseases are rare, it has been difficult to collect the requisite data to properly calculate standard epidemiological rates. As a result, the incidence and prevalence of many of these diseases are unknown. Rates for some have been published but are often incorrect or incorrectly interpreted. More accurate knowledge of disease incidence is needed for efforts like the developing Leukodystrophy Care Network, where the personnel requirements at participating centers will depend on incidence rates of the various diseases treated, or when designing clinical trials to assess the benefits of treatments.

Accurate epidemiological information will also benefit newborn screening programs by providing reference rates to which their case discovery rates can be compared. We propose to collect data from which accurate incidence rates can be calculated. Federal birth and death records will be downloaded from the National Center for Health Statistics to identify all deaths due to causes of death that share a cause of death code with the leukodystrophies of interest; i.e., those that are included in the Global Leukodystrophy Initiative (GLIA) registry. State death certificates will then be collected to determine the specific causes of death for a subset of decedents from literals that are on state death certificates but not in the national database.

We have employed this strategy successfully to obtain improved epidemiological descriptions of Krabbe disease and other leukodystrophies/lysosomal storage disorders in the same cause of death code category. We have also developed methods to calculate incidence rates from such data combined with registry data and will apply them in a preliminary study to demonstrate the potential for successful use of the methods on a broader scale to obtain accurate epidemiological descriptions of these rare diseases. The results of this preliminary study will provide the basis for a larger grant proposal to apply the methods more broadly to all diseases included in the GLIA registry.