According to Charcot-Marie-Tooth News, biotechnology company AcuraStem recently identified 37 potentially therapeutic compounds that could be used to treat patients with Charcot-Marie-Tooth disease type 2A (CMT2A). Currently, CMT2A is the most common subset of CMT2; since CMT2 makes up about 33% of all diagnoses, being able to better treat this group is an extremely promising and positive option.
AcuraStem
According to the company website, AcuraStem:
is a California-based biotechnology company employing cutting-edge technology in its efforts to find treatments and cures for neurodegenerative diseases (NDDs). Our best-in-class technology platform [iNeuroRx] consists of complex cellular models from ALS patient cells and sophisticated assays which permit AcuraStem’s scientists to model patient tissues in the laboratory, [allowing us to] screen small molecule or gene targeting libraries to discover the most efficacious therapeutic opportunities.
Following a 3-year collaboration with the CMT Research Foundation, AcuraStem identified 37 potential therapeutic compounds that could be used for patients with CMT2A. Although some of the compounds are already approved for the treatment of other conditions, this is the first time they have been introduced in the context of CMT. This type of drug discovery is usually called repurposing or repositioning.
In the next part of the study, researchers will determine which identified compounds should be researched further. Because these compounds are already shown to be safe in prior studies, researchers may be able to skip certain testing phases. This secondary study follows Phase 1 of the collaboration, which showed how neutrophics improved cell survival and growth.
During Phase 1, researchers found AS-1, a molecule that protected motor neurons in patients with amyotrophic lateral sclerosis (ALS). CMT also causes motor neuronal death and degeneration. As a result, researchers believe AS-1 could also be used as a potential treatment for patients with CMT2A.
Charcot-Marie-Tooth Disease (CMT)
Caused by gene mutations, Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy, has multiple subsets. This inherited neurological disorder differs in subtype based on the specific gene mutation. For example, MFN2 mutations cause CMT2A. These mutations impact the peripheral nerves outside of the spinal cord and brain, preventing the brain from communicating with the muscles. As these nerves degenerate, communication becomes even more impaired. Symptoms typically appear in adolescence or early adulthood. These include:
- Muscle weakness and atrophy, particularly in the hands
- Foot drop
- Frequent tripping
- Muscle weakness in the lower extremities
- Rhythmic muscle contractions
- Tremors
- Difficulty with walking or fine motor skills
- Foot deformities
Learn more about CMT.