Study of Proteus Syndrome and Related Congenital Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001403
First received: November 3, 1999
Last updated: March 14, 2014
Last verified: January 2014
  Purpose

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
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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

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 ClinicalTrials.gov identifier: NCT00001403

Contacts
Contact: Julie Sapp (301) 435-2832 sappj@mail.nih.gov
Contact: Leslie G Biesecker, M.D. (301) 402-2041 lesb@mail.nih.gov

Locations
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    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: Leslie G Biesecker, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00001403     History of Changes
Other Study ID Numbers: 940132, 94-HG-0132
Study First Received: November 3, 1999
Last Updated: March 14, 2014
Health Authority: United States: Federal Government

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

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

ClinicalTrials.gov processed this record on September 18, 2014