Proteus syndrome is a rare disease caused by the overgrowth of tissues including the skin, adipose tissue, and parts of the central nervous system. It also affects the skeleton. The condition is progressive and usually becomes apparent between the ages of 6 and 8 months. A quarter of patients die by the age of 22. Unfortunately, there are no approved treatments for Proteus syndrome.
ArQule has just announced positive results from a study examining a potential treatment for this deadly disease.
This recent study was for a therapy called miransertib. The development of this treatment for Proteus syndrome has already received support from the FDA, as the organization has granted the drug Orphan Drug Designation, Rare Pediatric Disease Designation, and Fast Track Designation. The European Medicines Agency has also granted the treatment Orphan Drug Designation.
Miransertib is an oral AKT inhibitor. Malfunctioning AKT is a characteristic of overgrowth disorders such as Proteus syndrome. By inhibiting AKT, researchers have found significant positive outcomes for these patient populations.
This most recent study of Miransertib was led by the NIH. Results have been published in the American Journal of Human Genetics.
Results showed the drug was generally well-tolerated. Additionally, activated AKT and the size of lesions were reduced for most participants. The effect on lesions is especially noteworthy because in Proteus syndrome they are typically relentlessly progressive and can result in severe pain, ulcerations, and morbidity. All children in the study reported less pain and discomfort following treatment with miransertib.
These results augment ArQule’s findings from their Phase 1/2 trial of the drug. This trial was conducted last year and results were presented at the American Society for Human Genetics 2018 Annual Meeting.
Ultimately, these recent results indicate that miransertib warrants further investigation. If miransertib continues to show positive results, we could see it become approved for treating Proteus syndrome in the near future.
You can read more about miransertib and these recent findings here.