Population-Based Prevalence Study
Earlier this year MDF issued a request for applications for the first phase of a two part study to better understand the prevalence of the disease-causing mutation or premutation in DM1 and DM2 in the general population. Diagnosed rates of prevalence for DM range from 0.46 to 210/100,000 in different European populations; specific US prevalence information is lacking. Given that the diagnostic odyssey for the disease may last 7 years for DM1 and 14 years for DM2(1), it is possible that the mutation load in the population is significantly higher than the diagnosed prevalence.
Accurate information regarding how many people in the US have DM1 and DM2 mutations, or are at risk of repeat expansion, will improve service provision, basic research, drug development and policymaking related to DM.
Phase I Awardee Announced
After a competitive review, the first phase of this award has been granted to Dr. Nicholas Johnson of the University of Utah to develop and validate a cost-effective screening methodology capable of estimating the prevalence of DM1 and DM2 mutations and pre-mutations in the general US population.
Phase II RFA in 2016
The Foundation expects to issue a second phase of this RFP in 2016 which will provide funds sufficient to implement a screen in a group representative of the general population, for example via newborn bloodspots, or via banked blood from other ongoing studies as appropriate, with the statistical power to extrapolate to the whole US population with a 95% confidence interval no more than +/- 25% of the prevalence estimate. Although applicants applying for Phase 2 funding will be required to demonstrate that they can use valid laboratory methods to perform the proposed work, they need not have been funded in Phase 1 of this RFP in order to successfully apply for Phase 2 funding.
Diagnostic odyssey of patients with myotonic dystrophy.
Hilbert JE, Ashizawa T, Day JW, et al.
J Neurol. 2013; 260: 2497-504.