Diagnosis and Treatment

  • In many cases, patients report that their diagnostic journey lasted several years.
  • Diagnosis for NPC is usually confirmed based on a variety of tests and a physical examination by a medical specialist.
  • Genetic testing is an important aspect of the diagnosis process for NPC. Blood samples may confirm the presence of abnormal genes that cause different forms of Niemann-Pick. DNA tests can also show who is a carrier of Niemann-Pick disease.
  • Efforts to build broader awareness of NPC among physicians can play an important role in reducing the time it takes for patients to get an accurate diagnosis.
  • There are currently no approved treatments for NPC in the United States and only limited treatment options available outside the U.S.
  • In most cases, treatment involves helping patients manage individual symptoms through options including physical therapy, speech therapy, assistive devices for walking and feeding, medications to reduce the risk of seizures or aid with sleeping, and mental health support services.
  • Cyclo Therapeutics is currently running the most advanced trial for the treatment of NPC in the world. The trial, known as TransportNPC, is evaluating the effectiveness of the investigational drug Trappsol®Cyclo. For more information about the trial, click here.