Vanda Pharmaceuticals Inc. announced the first dose in the first-in-human clinical trial to evaluate the safety and tolerability of VCA-894A, an intense oligonucleotide (ASO) therapeutic, for a patient with a rare variant in the IGHMBP2 gene causing Charcot-Marie-Tooth disease Type 2S (CMT2S). VCA-894A is being developed for a patient who was first diagnosed at the age of 5 with a rare subtype of CMT disease known as CMT2S. CMT2S is an inherited neuromuscular disorder that progressively leads to muscle weakness and loss of motor function, and has an estimated prevalence of less than 1 in 1,000,000 worldwide.
The severity and clinical presentations of CMT2S are influenced by the diverse genetic variants associated with CMT2S. Rare diseases collectively affect over 300 million people globally. Individualized treatments for such rare genetic disorders using nucleic acid-based platforms carry unprecedented potential to restore function where expression of crucial genes has been aberrant.
