Lifetime risk estimators in epidemiological studies of Krabbe Disease

Abstract

This review addresses difficulties arising in estimating epidemiological parameters of leukodystrophies and lysosomal storage disorders, with special focus on Krabbe disease. Although multiple epidemiological studies of Krabbe disease have been published, these studies are difficult to reconcile since they have used different study populations and varying methods of calculation. Confusion exists regarding which epidemiological parameters have been estimated; the current review shows that most previous estimates can be properly interpreted as lifetime risk at birth. One of the most common estimation methods is shown to be inaccurate, while two other methods are shown to be approximately accurate. Based on the results of the current paper, recommendations are made that are expected to improve the quality of future studies of Krabbe disease. It is anticipated that these recommendations will be applicable to epidemiological studies of other lysosomal storage disorders, as well as any other rare diseases diagnosed with enzymatic screening.

Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study

“…As pointed out by Foss et al and by Vanderver et al it is difficult to find other valid epidemiological data to compare with those reported in this paper. In 1997 Heim et al reported the results of a national survey of ‘all relevant medical institutions’ in Germany.…”

“…They decided that it was best to calculate the 'lifetime These can all be considered as peroxisomal biogenesis disorders, making a sub-group of 7+6+5=18 cases. Birth-68mo As pointed out by Foss et al 6 and by Vanderver et al 1 it is difficult to find other valid epidemiological data to compare with those reported in this paper. In 1997 Heim et al 15 reported the results of a national survey of 'all relevant medical institutions' in Germany.…”

JIMD Reports, Volume 25

“…Its estimated overall prevalence is 1:100,000 births, while a very high prevalence is found in two separate inbred Druze and Arab Muslim communities in Israel (Foss et al 2013;Rafi et al 1996). Its estimated overall prevalence is 1:100,000 births, while a very high prevalence is found in two separate inbred Druze and Arab Muslim communities in Israel (Foss et al 2013;Rafi et al 1996).…”

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings

“…Its estimated overall prevalence is 1:100,000 births, while a very high prevalence is found in two separate inbred Druze and Arab Muslim communities in Israel (Foss et al 2013;Rafi et al 1996). Assuming a birth rate of 100,000/year, a rough incidence estimate for Krabbe disease in Greece would be 0.63/ 100,000 births.…”