Research Progress Related to Pachyonychia Congenita

Investigators at the National Institutes of Health and other research centers across the country are working to develop therapies for PC. Much of the research focuses on targeting the underlying source of the disorder by “shutting down” the mutated keratin gene. Other efforts are aimed at reducing the pain associated with the symptoms. Following are examples of ongoing research studies.

• Targeting the mutated genes.
  • Investigators have uncovered evidence that a class of approved medications can improve symptoms of PC. Researchers are exploring the mechanisms of the drugs’ action, which likely includes lowering cellular levels of the mutated keratins, and are testing their benefit in a clinical trial of people with PC.
  • Small interfering RNA (siRNA).Scientists are using siRNA, a genetic tool for silencing specific genes, to target the altered keratin genes in people with the disorder.
• Alleviating pain.
  • The cause of pain in PC is poorly understood, but some evidence suggests that neuropathic pain, which stems from damaged or injured nerves, is at least partly to blame. Studies are testing the effectiveness of drugs that treat this type of pain.
• Characterizing each type of the condition.
  • Researchers are working to map the features, severity, and course of each type of PC. With a clearer picture of the characteristics of each type, they will more easily be able to design clinical trials to accurately measure the efficacy of experimental therapies.