Study of Proteus Syndrome and Related Congenital Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2014 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier:
First received: November 3, 1999
Last updated: November 11, 2014
Last verified: October 2014

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.

Growth Disorder
Mental Retardation
Multiple Abnormalies

Study Type: Observational
Official Title: The Phenotype and Etiology of Proteus Syndrome and Related Overgrowth Disorders

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 1500
Study Start Date: April 1994
Detailed Description:

The purpose of this project is to determine the natural history and etiology of Proteus

syndrome. The natural history and the phenotypic range will be determined by clinical

assessment and longitudinal follow-up of a cohort of patients. Subjects will be screened for

eligibility using published diagnostic criteria for Proteus syndrome. The determination of the

molecular etiology of this disorder will be difficult. It is extremely rare, affected patients have a

shortened lifespan, and the disorder is sporadic. Thus the typical approach of positional

cloning is not useful. The etiology of this disorder will be studied using various comparative

molecular biology techniques including cDNA arrays, genomic arrays, subtractive techniques,

testing of candidate genes, and other appropriate techniques. We will also test for

dysregulation of growth controlling hormones and binding proteins in vivo.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

For Proteus Patients

All affected subjects should have the following general criteria: mosaic distribution of lesions, progressive course, and sporadic occurrence.

In addition, they should have either 1 from A, 2 from B or 3 from C.

A. Cerebriform connective tissue nevus.

B. Epidermal nevus, Disproportionate overgrowth, specific tumors before the age of 30 years (bilateral. ovarian cystadenomas or monomorphic parotid adenoma).

C. Dysregulated adipose tissue, Vascular malformations, Lung cysts, Facial phenotype.

The Proteus mail-in and Proteus case review subjects must meet the same eligibility standards as those who come to the clinical center and this will be determined by the review of the materials.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00001403

Contact: Julie Sapp (301) 435-2832
Contact: Leslie G Biesecker, M.D. (301) 402-2041

United States, District of Columbia
Childrens National Medical Center Recruiting
Washington, District of Columbia, United States
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 Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
Principal Investigator: Leslie G Biesecker, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier: NCT00001403     History of Changes
Other Study ID Numbers: 940132, 94-HG-0132
Study First Received: November 3, 1999
Last Updated: November 11, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Mental Retardation
Growth Retardation
Uniparental Isodisomy
Multiple Abnormalities
Proteus Syndrome

Additional relevant MeSH terms:
Hamartoma Syndrome, Multiple
Growth Disorders
Intellectual Disability
Proteus Syndrome
Abnormalities, Multiple
Bone Diseases
Bone Diseases, Developmental
Congenital Abnormalities
Limb Deformities, Congenital
Mental Disorders
Mental Disorders Diagnosed in Childhood
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Neoplasms, Multiple Primary
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations
Pathologic Processes
Signs and Symptoms processed this record on August 02, 2015