The disorder is progressive, with high morbidity and mortality - there are very few living adults with this disease. 49G>A, p.(Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase. Proteus syndrome is a rare mosaic overgrowth disorder caused by a somatic gain of function variant, c. Participants will have 20 30 visits at the NIH. They may have consultations with other specialists. Participants may have additional tests performed to assess their individual disease. Participants will complete surveys about their levels of pain, physical functioning, and quality of life. Participants will have lung function tests to measure how much and how fast air moves out of their lungs. Photos may be taken of their feet and other parts of the body that have or develop signs of Proteus syndrome. Participants will have X-rays, ultrasounds, and imaging scans. If they can t swallow a pill, researchers will try to find other ways for them to take the drug. They will bring their empty pill bottles with them to the NIH when they visit. Participants will take a miransertib pill once a day. They will repeat the screening tests during the study. They will have an electrocardiogram to measure their heartbeat. They will have a physical exam with vital signs. They will answer questions about their medical history and current health. Participants will be screened with a medical checkup. People ages 3 and older with Proteus syndrome The learn if miransertib is a safe and effective treatment for Proteus syndrome.
Researchers want to see if a new drug can slow down or stop overgrowth in people with Proteus syndrome. There are very few living adults with this disease. Most people begin to have symptoms between 6 months and 2 years of age. Proteus syndrome is a rare overgrowth disorder. Why Should I Register and Submit Results?.