Study of Skin Tumors in Tuberous Sclerosis

This study is looking at what causes skin tumors to develop in people with Tuberous Sclerosis (TSC), a rare genetic condition where non-cancerous tumors can grow in different parts of the body. Researchers want to understand the molecular basis of these skin tumors. You may be able to join if you are 18 to 90 years old and have a diagnosis of TSC. The study aims to identify the specific tumor cells in skin and mouth tumors by studying their genetic makeup. This will help researchers understand how these tumors grow. There are no specific interventions or drugs being tested in this observational study.

Study design
This is an observational study planning to enroll 400 participants. It is not testing a specific drug or treatment.
What's involved
You will have a medical history taken and a skin exam by a dermatologist. If you have skin tumors, you may be asked to have up to eight biopsies (tissue removal) under local anesthetic for research.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, identifying tumor cells, is measured at ongoing timeframes. It is not specified how long participants are followed after this.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00001975

Study of Skin Tumors in Tuberous Sclerosis

Recruiting
Not specifiedAges 18–90Observational
National Heart, Lung, and Blood Institute (NHLBI)
~400 participants
Updated 2026-08-28 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
1.Identify the tumor cells in cutaneous and mucosal tumors in patients with TSC through LOH studies on microdissected cell populations
Measured over ongoing
Tuberous Sclerosis
1 sites across 1 states
Maryland1
  • Joel Moss, M.D. · PRINCIPAL_INVESTIGATOR · National Heart, Lung, and Blood Institute (NHLBI)

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  • 1.Identify the tumor cells in cutaneous and mucosal tumors in patients with TSC through LOH studies on microdissected cell populationsongoing

    natural history