Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy.

ABSTRACT:

Objective

To test the effect of the single nucleotide polymorphism -66 T>G (rs28357094) in the osteopontin gene (SPP1) on functional measures over 12 months in Duchenne muscular dystrophy (DMD).

Methods

This study was conducted on a cohort of ambulatory patients with DMD from a network of Italian neuromuscular centers, evaluated longitudinally with the north star ambulatory assessment (NSAA) and the 6-minute walk test (6MWT) at study entry and after 12 months. Genotype at rs28357094 was determined after completion of the clinical evaluations. Patients were stratified in 2 groups according to a dominant model (TT homozygotes vs TG heterozygotes and GG homozygotes) and clinical data were retrospectively compared between groups.

Results

Eighty patients were selected (age

SUBMITTER: Bello L 

PROVIDER: S-EPMC3390537 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature