Study of Proteus Syndrome and Related Congenital Disorders
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00001403|
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : November 28, 2019
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 and their parents may be eligible for this study. Parents will be studied, when possible, for comparison of molecular findings. 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 will have will be interviewed or complete questionnaires, or both, about how their disease affects them. (Parents will be asked about their feelings about having a child with a rare disorder.) Patients will provide a small blood sample for research and may be asked to undergo biopsies from a normal area of skin and from a tumor.
|Condition or disease|
|Proteus Syndrome PIK3CA Related Overgrowth Spectrum|
|Study Type :||Observational|
|Estimated Enrollment :||1500 participants|
|Official Title:||The Phenotype and Etiology of Proteus Syndrome and Related Overgrowth Disorders|
|Study Start Date :||April 9, 1994|
Patients with Proteus syndrome (PS) and other overgrowth disorders hypothesized to be in the AKT/PI3K pathway
- Molecular delineation of disorders under study [ Time Frame: ongoing ]Determine causative genotypes of overgrowth disorders
- Determination of natural history of disorders under study [ Time Frame: ongoing ]Determine natural history of a variety of overgrowth disorders
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001403
|Contact: Julie Sapp||(301) firstname.lastname@example.org|
|Contact: Leslie G Biesecker, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Leslie G Biesecker, M.D.||National Human Genome Research Institute (NHGRI)|