Rett syndrome (sometimes abbreviated as RTT) affects brain development, resulting in an inability to control the muscles in the body. This affects not only the muscles required for movement, but also those required for basic functions like eating, digestion, and breathing. As a result, Rett syndrome is often associated with breathing problems like shallow breaths, hyperventilation (breathing too fast), breath-holding (taking a breath and failing to let it out), swallowing air, or apnea (failing to take another breath after letting one out). This irregular breathing generally occurs during the day while a person is awake. The episodes are involuntary and may cause dizziness, reduce mental focus, and reduce coordination, complicating even basic tasks like eating and drinking.
While there is no cure for Rett syndrome, researchers are studying potential treatment options that focus on controlling the symptoms. The STARS clinical research study is testing the investigational medication sarizotan to see if it may help reduce irregular breathing episodes in people with Rett syndrome.