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Study of Skin Tumors in Tuberous Sclerosis
This study is currently recruiting participants.
Study NCT00001975   Information provided by National Institutes of Health Clinical Center (CC)
First Received: January 20, 2000   Last Updated: September 5, 2009   History of Changes

January 20, 2000
September 5, 2009
January 2000
December 2001   (final data collection date for primary outcome measure)
 
 
Complete list of historical versions of study NCT00001975 on ClinicalTrials.gov Archive Site
 
 
 
Study of Skin Tumors in Tuberous Sclerosis
Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis

Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This study will investigate what causes skin tumors to develop in patients with this disease.

Patients with tuberous sclerosis 18 years and older may enroll in this study. Participants will undergo a medical history and thorough skin examination by a dermatologist. Those with skin tumors will be asked to undergo biopsy (tissue removal) of up to eight lesions, under a local anesthetic, for research purposes. The biopsies will all be done the same day. The tissue samples will be used for: examination of genetic changes, measurement of certain proteins and other substances, and growing in culture to study the genetics of tuberous sclerosis.

Patients with tuberous sclerosis develop benign cutaneous tumors that are typically multiple in number and location. These tumors include facial angiofibromas, forehead plaques, shagreen patches, periungual fibromas, and gingival fibromas. The tumors are permanent, slow growing, and often disfiguring. The purpose of this study is to elucidate the molecular basis for these tumors. Specifically, we plan to identify the genetically altered cells in these hamartomatous lesions, and to quantify factors (e.g. cytokines) produced by these cells which induce the growth of these tumors. To accomplish this, we plan to obtain samples of these cutaneous tumors, to test tumor DNA for loss of heterozygosity, and to measure RNA and protein expression levels.

 
Observational
 
  • Hereditary Neoplastic Syndrome
  • Tuberous Sclerosis
 
 

*   Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
 
Recruiting
130
 
December 2001   (final data collection date for primary outcome measure)
  • INCLUSION CRITERIA:

Patients will be those already diagnosed with TSC based on clinical criteria and/or genetic testing, and ranging in age from 18 to 90 years old.

The clinical features of TSC considered of major significance are: facial angiofibromas or forehead plaque, nontraumatic periungual fibromas, three or more hypomelanotic macules, shagreen patch, multiple retinal nodular hamartomas, cortical tuber, subependymal nodule, subependymal giant cell astrocytoma, cardiac rhabdomyoma, lymphangioleiomyomatosis, and renal angiomyolipoma.

The minor features of TSC are: multiple randomly distributed pits in dental enamel, hamartomatous rectal polyps, bone cysts, cerebral white matter radial migration lines, gingival fibromas, nonrenal hamartoma, retinal achromic patch, "confetti" skin lesions, and multiple renal cysts.

EXCLUSION CRITERIA:

Inability to give informed consent.

Tendency to keloid formation.

Allergy to anesthetics.

Bleeding abnormality.

Both
18 Years to 90 Years
No
Contact: Mary Haughey, R.N. (301) 496-3632 mhaughey@nhlbi.nih.gov
United States
 
NCT00001975
 
000051, 00-H-0051
National Heart, Lung, and Blood Institute (NHLBI)
 
 
National Institutes of Health Clinical Center (CC)
July 2009

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP