Understanding Proteus Syndrome and Related Growth Disorders
Part of Bones, joints & muscles, Cancer, Genetic & congenital clinical trials.
This study investigates Proteus syndrome, a rare condition that causes abnormal overgrowth of body parts, and related disorders. Researchers want to understand how these conditions develop, progress over time, and affect people of different ages—including how they may change into adulthood.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your child has been diagnosed with Proteus syndrome, OR have a specific genetic variant (AKT1 p.Glu17Lys) identified through testing
- You have overgrowth features that may suggest Proteus syndrome or a related overgrowth disorder
- You are at least one month old (newborns under one month cannot participate)
- You are able to travel to the NIH Clinical Center for an in-person evaluation, or researchers determine you are a good fit for the study
- If you are an adult with cognitive or decision-making challenges, you have a legal guardian who can provide consent on your behalf
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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