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Study identifier: NCT00001403 Synced from ClinicalTrials.gov · July 29, 2026
● Recruiting

Study of Proteus Syndrome and Related Congenital Disorders

Condition: Proteus Syndrome · PIK3CA Related Overgrowth Spectrum  ·  Sponsor: National Human Genome Research Institute (NHGRI)

PhaseN/A
Planned participants1500
Who can joinAll sexes, 1 Month to 99 Years
Healthy volunteersNo

About this study

This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, the changes in symptoms over time, and the effects of the disease on patients. Patients with Proteus syndrome may be eligible for this study. Study candidates will have a medical history and physical examination, including X-rays and possibly other imaging tests, such as computerized tomography (CT), magnetic resonance imaging (MRI) and ultrasound. Other tests and examinations may be done if needed. Those enrolled in the study may be interviewed or complete questionnaires, or both, about how their disease affects them. Patients will provide a small blood sample for research....

This description comes directly from the study's public registry record.

Talk to the study team

Julie C Sapp  ·  (301) 435-2832  ·  sappj@mail.nih.gov

Leslie G Biesecker, M.D.  ·  (301) 402-2041  ·  lesb@mail.nih.gov

Always discuss trial participation with your own doctor first.

Locations (1)

National Institutes of Health Clinical CenterBethesda, Maryland, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT00001403