Study of Proteus Syndrome and Related Congenital Disorders

This study is looking at rare conditions like Proteus syndrome and related overgrowth disorders. Researchers want to understand what causes these conditions, how they change over time, and how they affect patients. Proteus syndrome causes overgrowth, benign (non-cancerous) tumors, and uneven limb growth. You might be able to join if you have Proteus syndrome or a specific genetic change called AKT1 p.Glu17Lys. The study aims to better understand these disorders at a molecular level (how they work in your body's cells) and track how symptoms develop. This is an observational study, meaning no specific interventions are being tested, and the status is currently unclear.

Study design
This is an observational study planning to include up to 1500 participants, ranging from 1 month to 99 years old.
What's involved
You would have a medical history review, physical exam, X-rays, and possibly other imaging tests like CT, MRI, and ultrasound. There will also be ongoing clinical assessments and follow-up.
Compensation
Not stated in the trial record.
Follow-up
The study involves ongoing follow-up to determine the natural history of the disorders.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00001403

Study of Proteus Syndrome and Related Congenital Disorders

Recruiting
Not specifiedAges 1–99Observational
National Human Genome Research Institute (NHGRI)
~1,500 participants
Updated 2026-07-27 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Molecular delineation of disorders under study
Measured over ongoing
+1 more outcome measured
Proteus Syndrome
PIK3CA Related Overgrowth Spectrum
1 sites across 1 states
Maryland1
  • Leslie G Biesecker, M.D. · PRINCIPAL_INVESTIGATOR · National Human Genome Research Institute (NHGRI)

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  • Molecular delineation of disorders under studyongoing

    Determine causative genotypes of overgrowth disorders

  • Determination of natural history of disorders under studyongoing

    Determine natural history of a variety of overgrowth disorders