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| Sponsor: | National Heart, Lung, and Blood Institute (NHLBI) |
|---|---|
| Collaborator: |
United States Uniformed Health Service |
| 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 |
| Estimated Enrollment: | 130 |
| Study Start Date: | January 2000 |
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 90 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
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.
Contacts and Locations| Contact: Mary Haughey, R.N. | (301) 496-3632 | mhaughey@nhlbi.nih.gov |
| 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 | |
| Sub-Investigator: Haughey Mary | |
More Information
| ClinicalTrials.gov Identifier: | NCT00001975 History of Changes |
| Other Study ID Numbers: | 000051, 00-H-0051 |
| Study First Received: | January 20, 2000 |
| Last Updated: | December 23, 2011 |
| Health Authority: | United States: Federal Government |
|
Skin Biopsy Familial Tumor Syndrome Cell Growth |
Loss of Heterozygosity Cytokines Tuberous Sclerosis |
|
Neoplasms Neoplastic Syndromes, Hereditary Sclerosis Tuberous Sclerosis Genetic Diseases, Inborn Pathologic Processes Hamartoma |
Malformations of Cortical Development Nervous System Malformations Nervous System Diseases Neurocutaneous Syndromes Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Congenital Abnormalities |
