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Study of Proteus Syndrome and Related Congenital Disorders

NCT00001403 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1500

Last updated 2026-05-22

No results posted yet for this study

Summary

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

  • Proteus Syndrome
  • PIK3CA Related Overgrowth Spectrum

Sponsors & Collaborators

  • Children's National Research Institute

    collaborator OTHER

  • Uniformed Services University of the Health Sciences

    collaborator FED

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Leslie G Biesecker, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
1 Month
Max Age
99 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1994-04-27

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001403 on ClinicalTrials.gov