Background:
Proteus syndrome is a rare overgrowth disorder. Most people begin to have symptoms between 6
months and 2 years of age. There are very few living adults with this disease. There is also
no known treatment for it. Researchers want to see if a new drug can slow down or stop
overgrowth in people with Proteus syndrome.
Objective:
The learn if miransertib is a safe and effective treatment for Proteus syndrome.
Eligibility:
People ages 3 and older with Proteus syndrome
Design:
Participants will be screened with a medical checkup. They will answer questions about their
medical history and current health. They will have a physical exam with vital signs. They
will have an electrocardiogram to measure their heartbeat. They will give blood and urine
samples. They will repeat the screening tests during the study.
Participants will take a miransertib pill once a day. They will bring their empty pill
bottles with them to the NIH when they visit. If they can t swallow a pill, researchers will
try to find other ways for them to take the drug.
Participants will have X-rays, ultrasounds, and imaging scans. Photos may be taken of their
feet and other parts of the body that have or develop signs of Proteus syndrome.
Participants will have lung function tests to measure how much and how fast air moves out of
their lungs.
Participants will complete surveys about their levels of pain, physical functioning, and
quality of life.
Participants may have additional tests performed to assess their individual disease. They may
have consultations with other specialists.
Participation lasts about 4 years. Participants will have 20 30 visits at the NIH.
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