January 13, 2015
A preclinical and a clinical study published in the Orphanet Journal of Rare Diseases explore new approaches to drug development for rare diseases. Researchers tested PXT3003, a combination of three approved compounds (baclofen, naltrexone and sorbitol), for its potential to treat Charcot-Marie-Tooth type 1A disease (CMT1A). The combination, first tested in a rat-model of CMT1A, demonstrated that the three drugs synergistically down-regulated PMP22.
Following the success of pre-clinical studies, PXT3003 was tested in CMT1A patients. The clinical trial confirmed its safety and tolerance, and demonstrated that patients receiving the highest dose of PXT3003 showed the least deterioration and displayed some improvements. This type of combinatorial approach to treat diseases is often used in clinical practice, but it is the first time individual drugs are used together for a pleiotropic method of action which would be beneficial for many complex rare diseases.