GARS1 Antisense Oligonucleotide Study

Overview

An open-label single center, single-participant study of an experimental antisense oligonucleotide treatment for Charcot-Marie-Tooth type 2D due to GARS1 genetic mutation study

Investigational development of targeted antisense oligonucleotide (ASO) for patient with CMT2D due to GARS1 gene defect. The n-lorem foundation focuses on the development of therapies for ultra-rare diseases that afflict less than 30 individuals in the world. This n-of-1 trial involves the use of a mouse model with the same genotype and phenotype of a patient with a GARS1 gene defect that results in a toxic gain of function effect. Allele-specific RNA interference of this defect has demonstrated the ability to prevent neuropathy in these mouse models. An ASO was created specific to this patient’s genotype and phenotype. The patient will receive the ASO via intrathecal infusions with ongoing monitoring for safety precautions and measurement of neurologic improvement based on disease-specific multiple scales.

Population of the study: N of 1
Intervention: Intrathecal administration of targeted ASO specifically designed for this patient
Control: N/A
Outcome: Multiple biochemical, neurophysiologic, and functional measures will be used to monitor neurologic progress

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Trial Information

Target Enrollment: N/A
Funder: n-Lorem funded and oversaw development of the ASO and will provide the treatment free for life
Duration of Study: To be determined

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Principal Investigator

S. Nick Russo, MD

 

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