Actively Recruiting
Study of Proteus Syndrome and Related Congenital Disorders
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-05-08
1500
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
N
National Human Genome Research Institute (NHGRI)
Lead Sponsor
C
Children's National Research Institute
Collaborating Sponsor
AI-Summary
What this Trial Is About
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....
CONDITIONS
Official Title
Study of Proteus Syndrome and Related Congenital Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients who meet clinical diagnostic criteria for Proteus syndrome or have AKT1 p.Glu17Lys variants
- Patients of all ages, including children and adults with cognitive impairments
- Patients with overgrowth not definitively Proteus syndrome but with some clinical manifestations considered on a case-by-case basis
- Women of childbearing age may be included, with pregnancy monitoring
- No restrictions based on race, age, or gender
- Patients able to travel to the NIH Clinical Center for in-person evaluation whenever possible
You will not qualify if you...
- Patients with cancer but without overgrowth or Proteus syndrome manifestations
- Patients with well-characterized overgrowth syndromes other than Proteus syndrome (e.g., Bannayan-Riley-Ruvalcaba syndrome, PHACES syndrome)
- Prisoners, healthy volunteers, or laboratory personnel
- Patients medically fragile or unable to tolerate travel to the study site
- Neonates (newborns less than one month old)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
J
Julie C Sapp
CONTACT
L
Leslie G Biesecker, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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