Article
Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial.
Trials - 5 Dec 2022
Willemse Sean W, Roes Kit C B, Van Damme Philip, Hardiman Orla, Ingre Caroline, Povedano Monica, Wray Naomi R, Gijzen Marleen, de Pagter Mirjam S, Demaegd Koen C, Janse Annemarie F C, Vink Roel G, Sleutjes Boudewijn T H M, Chiò Adriano, Corcia Philippe, Reviers Evy, Al-Chalabi Ammar, Kiernan Matthew C, van den Berg Leonard H, van Es Michael A, van Eijk Ruben P A
Abstract excerpt
BACKGROUND: Given the large genetic heterogeneity in amyotrophic lateral sclerosis (ALS), it seems likely that genetic subgroups may benefit differently from treatment. An exploratory meta-analysis identified that patients homozygous for the C-allele at SNP rs12608932, a single nucleotide polymorphism in the gene UNC13A, had a statistically significant survival benefit when treated with lithium carbonate. We aim...
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