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Novel Recruitment Strategy To Enrich For LRRK2 Mutation Carriers

Foroud, T; Smith, D; Jackson, J; Verbrugge, J; Halter, C; Wetherill, L; Sims, K; Xin, W; Arnedo, V; Lasch, S; Marek, K
 
2015-06-14
MDS: San Diego, CA
Download Presentation: 1162 Foroud-LRRK2-recruitment-2015-MDS.pdf
 
Abstract:
OBJECTIVE:
This study was designed to test whether an internet based approach could be an effective approach to screen and identify mutation carriers.

BACKGROUND:
The LRRK2 G2019S mutation is found at higher frequency among Parkinson's disease (PD) patients of Ashkenazi Jewish (AJ) ancestry. This study was designed to test whether an internet based approach could be an effective approach to screen and identify mutation carriers.

METHODS:
Individuals with and without PD of AJ ancestry were recruited and consented through an internet based study website developed as part of the Parkinson's Progression Markers Initiative (PPMI) study. An algorithm was applied to a series of screening questions to identify individuals at increased risk to carry the LRRK2 G2019S mutation.

RESULTS:
1,000 individuals completed the initial screening. 741 qualified for mutation testing and 650 were tested. 72 individuals carried at least one LRRK2 G2019S mutation; 38 with PD (12.5%) and 34 without (10.1%). Among the AJ PD participants, each affected first?degree relative increased the likelihood the individual was LRRK2+ (OR= 4.7; 95% confidence interval?=?(2.4 ? 9.0)). The same was not observed among the unaffected AJ subjects (p=0.11).

CONCLUSIONS:
An internet?based successfully screened large numbers of individuals to identify those with risk factors increasing the likelihood that they carried a LRRK2 G2019S mutation. A similar approach could be implemented in other disorders to identify individuals for clinical trials, biomarker analyses and other types of research studies.