Study of Skin Tumors in Tuberous Sclerosis
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|ClinicalTrials.gov Identifier: NCT00001975|
Recruitment Status : Recruiting
First Posted : January 21, 2000
Last Update Posted : October 16, 2018
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 or disease|
|Study Type :||Observational|
|Estimated Enrollment :||130 participants|
|Official Title:||Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis|
|Study Start Date :||January 19, 2000|
Patients will be those already diagnosed with TSC (definite or possible)
- 1.Identify the tumor cells in cutaneous and mucosal tumors in patients with TSC through LOH studies on microdissected cell populations [ Time Frame: ongoing ]natural history
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001975
|Contact: Tania R Machado||(301) email@example.com|
|Contact: Joel Moss, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: Mary Haughey 301-496-3632 email@example.com|
|Principal Investigator:||Joel Moss, M.D.||National Heart, Lung, and Blood Institute (NHLBI)|