ClinicalTrials.gov record NCT00001975
Study of Skin Tumors in Tuberous Sclerosis
Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational study enrolls adults with tuberous sclerosis to study the cause of their skin tumors. Participants will have a medical history and a dermatology skin exam; those with skin tumors may be asked to have up to eight lesions biopsied under local anesthetic on the same day. Biopsy tissue will be used for genetic tests, measurements of RNA and protein, and for growing cells in culture for research.
What it is studying. The study is trying to learn the molecular basis of the benign skin tumors seen in tuberous sclerosis. It aims to identify the genetically altered cells within lesions, measure factors such as cytokines produced by those cells, test tumor DNA for loss of heterozygosity (LOH), and measure RNA and protein expression; samples may also be grown in culture to study tumor cell genetics.
What the researchers hope to learn. To elucidate the molecular basis of cutaneous tumors in tuberous sclerosis by identifying genetically altered cells, quantifying factors (for example, cytokines) produced by those cells, performing loss-of-heterozygosity studies on tumor DNA, and measuring RNA and protein expression.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Patients will be those already diagnosed with TSC (definite, probable, or possible) 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 (5). Definite TSC is diagnosed by the presence of two major features or one major feature plus two minor features. Probable TSC is diagnosed by the presence of one major feature and one minor feature. Possible TSC is diagnosed by the presence of either one major feature or two or more minor features. Patients will not be preselected for skin lesions, but about 80% of patients with TSC are expected to have skin lesions.
Exclusion criteria
- Inability to give informed consent.
- Tendency to keloid formation.
- Allergy to anesthetics.
- Bleeding abnormality.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
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.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
You will have a medical history taken and a thorough skin examination by a dermatologist. If you have skin tumors, you will be asked to have up to eight biopsies (tissue removal) performed under local anesthetic; the biopsies would all be done the same day and are for research purposes. The tissue samples will be used to test for genetic changes, to measure RNA and protein expression and other substances, and may be grown in laboratory culture to study the tumor cells.
How the study is structured. This is a prospective observational cohort study with no treatments assigned. Participants receive a medical history and a thorough skin exam by a dermatologist. If skin tumors are present, participants may undergo biopsy of up to eight lesions under local anesthetic on the same day; the collected tissue will be analyzed for genetic changes, RNA and protein levels, and grown in culture. The record does not specify a follow-up schedule or overall study duration.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on tuberous sclerosis complex
Important dates
- Study start
- Jan 26, 2000
- Target enrollment
- 400 participants (estimated)
- Last updated on registry
- Oct 8, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- Collaborators
- Uniformed Services University of the Health Sciences
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Tatyana A Worthy, R.N. 📞 (301) 827-1376 ✉ worthyt@mail.nih.gov
- Joel Moss, M.D. 📞 (301) 496-1597 ✉ mossj@nhlbi.nih.gov
Participating sites (1)
- National Institutes of Health Clinical CenterRecruiting
Bethesda, Maryland, 20892 · United States
Terms used on this page · explanations by MedicalUpdates.ai
- biopsy
- Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- INCLUSION CRITERIA
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- EXCLUSION CRITERIA
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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