Study of Skin Tumors in Tuberous Sclerosis

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Heart, Lung, and Blood Institute (NHLBI)
Study ID
NCT00001975
Status
Recruiting
Apply to this trial

Conditions

  • Tuberous Sclerosis

Eligibility Criteria

Sex
ALL
Age
18 Years - 90 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Jan 26, 2000
Status verified
May 2026

Study Design

Enrollment
400 participants (estimated)

Arms

  • Arm: Group 1
    Patients will be those already diagnosed with TSC (definite or possible)

Primary Outcome Measure

1.Identify the tumor cells in cutaneous and mucosal tumors in patients with TSC through LOH studies on microdissected cell populations [ Time Frame: ongoing ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892-

Find similar trials in Bethesda, MD

By research site
National Institutes of Health Clinical Center· Bethesda, MD

Related Studies