Study of Proteus Syndrome and Related Congenital Disorders
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.
|Official Title:||The Phenotype and Etiology of Proteus Syndrome and Related Overgrowth Disorders|
|Study Start Date:||April 1994|
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.
|Contact: Julie Sapp||(301) firstname.lastname@example.org|
|Contact: Leslie G Biesecker, M.D.||(301) email@example.com|
|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 firstname.lastname@example.org|
|Principal Investigator:||Leslie G Biesecker, M.D.||National Human Genome Research Institute (NHGRI)|