Study of Proteus Syndrome and Related Congenital Disorders

Conditions

• PIK3CA Related Overgrowth Spectrum
• Proteus Syndrome

Eligibility Criteria

Sex

ALL

Age

1 Month - 99 Years

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Apr 27, 1994

Status verified

Jun 2026

Study Design

Enrollment

1,500 participants (estimated)

Arms

• Arm: Proteus Syndrome
  Patients with Proteus syndrome (PS) and other overgrowth disorders hypothesized to be in the AKT/PI3K pathway

Primary Outcome Measure

Molecular delineation of disorders under study [ Time Frame: ongoing ]

Central Contacts

• Julie C Sapp
  (301) 435-2832
  [email protected]
• Leslie G Biesecker, M.D.
  (301) 402-2041
  [email protected]

Locations (1)

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