Project Grant R21NS139341

Award Date 9/17/24
Completion Date 9/16/26
Dollars Obligated $2K
Funding Federal Agency
Fogarty International Center
Federal Grant Program
93.989
Assistance Type
Project Grant
Place of Performance
Boston, MA 02115, USA
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  1. Establish a large patient cohort in Brazil to study the genotype-phenotype correlation and natural history of ATP1A3-related disorders, which include alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.

  2. Develop allele-specific antisense oligonucleotides as a novel therapeutic approach to knockdown mutant ATP1A3 mRNA, using induced pluripotent stem cells derived from the Brazilian patient population as a platform.

This project aims to advance the understanding of this rare and debilitating neurological condition, prepare the Brazilian patient population for future clinical trials, and develop a promising new treatment strategy that could benefit patients worldwide.

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