Actively Recruiting
Study of Skin Tumors in Tuberous Sclerosis
Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-05-01
400
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
N
National Heart, Lung, and Blood Institute (NHLBI)
Lead Sponsor
U
Uniformed Services University of the Health Sciences
Collaborating Sponsor
AI-Summary
What this Trial Is About
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. ...
CONDITIONS
Official Title
Study of Skin Tumors in Tuberous Sclerosis
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosed with tuberous sclerosis complex (definite, probable, or possible) by clinical or genetic criteria
- Age between 18 and 90 years
- Presence of major clinical features such as facial angiofibromas, forehead plaques, periungual fibromas, hypomelanotic macules, shagreen patches, retinal nodular hamartomas, cortical tubers, subependymal nodules or giant cell astrocytomas, cardiac rhabdomyoma, lymphangioleiomyomatosis, or renal angiomyolipoma
- Presence of minor features including enamel pits, rectal polyps, bone cysts, cerebral white matter migration lines, gingival fibromas, nonrenal hamartomas, retinal achromic patches, confetti skin lesions, or multiple renal cysts
- Diagnosis of definite TSC requires two major features or one major plus two minor features
- Diagnosis of probable TSC requires one major plus one minor feature
- Diagnosis of possible TSC requires either one major or two or more minor features
- Patients are not preselected for skin lesions but about 80% are expected to have skin lesions
You will not qualify if you...
- Unable to provide informed consent
- History of keloid scar formation
- Allergy to anesthetics
- Bleeding disorders or abnormalities
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
T
Tatyana A Worthy, R.N.
CONTACT
J
Joel Moss, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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