Study of Skin Tumors in Tuberous Sclerosis - Full Text View

Sponsored by:	National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00001975

Purpose

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.

Condition
Hereditary Neoplastic Syndrome Tuberous Sclerosis

Study Type:	Observational
Official Title:	Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis

Resource links provided by NLM:

Genetics Home Reference related topics: tuberous sclerosis complex

MedlinePlus related topics: Cancer Skin Cancer Tuberous Sclerosis

U.S. FDA Resources

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

Estimated Enrollment:	130
Study Start Date:	January 2000
Estimated Study Completion Date:	December 2001
Estimated Primary Completion Date:	December 2001 (Final data collection date for primary outcome measure)

Detailed Description:

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.

Eligibility

Ages Eligible for Study:	18 Years to 65 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

INCLUSION CRITERIA:

Patients will be those already diagnosed with TSC based on clinical criteria and/or genetic testing.

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.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001975

Contacts

Contact: Mary Haughey, R.N.

(301) 496-3632

mhaughey@nhlbi.nih.gov

Locations

United States, Maryland
United States Uniformed Health Service	Recruiting
Bethesda, Maryland, United States, 20889
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

Kwiatkowski DJ, Short MP. Tuberous sclerosis. Arch Dermatol. 1994 Mar;130(3):348-54. Review.

Weiner DM, Ewalt DH, Roach ES, Hensle TW. The tuberous sclerosis complex: a comprehensive review. J Am Coll Surg. 1998 Nov;187(5):548-61. Review. No abstract available.

Webb DW, Clarke A, Fryer A, Osborne JP. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol. 1996 Jul;135(1):1-5.

Study ID Numbers:	000051, 00-H-0051
Study First Received:	January 20, 2000
Last Updated:	June 9, 2009
ClinicalTrials.gov Identifier:	NCT00001975 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Skin Biopsy
Familial Tumor Syndrome
Cell Growth

Loss of Heterozygosity
Cytokines
Tuberous Sclerosis

Study placed in the following topic categories:

Heredodegenerative Disorders, Nervous System
Neoplastic Syndromes, Hereditary
Tuberous Sclerosis
Genetic Diseases, Inborn
Nervous System Malformations
Bourneville Syndrome

Sclerosis
Neurodegenerative Diseases
Congenital Abnormalities
Malformations of Cortical Development
Skin Neoplasms
Neurocutaneous Syndromes

Additional relevant MeSH terms:

Disease
Nervous System Malformations
Nervous System Diseases
Sclerosis
Neurodegenerative Diseases
Hamartoma
Neoplasms
Heredodegenerative Disorders, Nervous System

Neoplastic Syndromes, Hereditary
Tuberous Sclerosis
Pathologic Processes
Genetic Diseases, Inborn
Syndrome
Congenital Abnormalities
Malformations of Cortical Development
Neurocutaneous Syndromes

ClinicalTrials.gov processed this record on July 02, 2009