Investigating skin tumors in patients with tuberous sclerosis
Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis
This study is testing how skin tumors in adults with tuberous sclerosis develop by looking at their medical history and examining their skin to understand what causes these tumors.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 400 (estimated) |
| Ages | 18 Years to 90 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00001975 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on patients diagnosed with tuberous sclerosis, a hereditary condition that leads to the development of multiple benign tumors. Participants aged 18 and older will undergo a thorough medical history review and skin examination by a dermatologist. Those with skin tumors will have biopsies performed on up to eight lesions to analyze genetic changes, protein levels, and other factors contributing to tumor growth. The goal is to better understand the molecular basis of these tumors and the factors that promote their development.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals aged 18 to 90 who have been diagnosed with tuberous sclerosis.
Not a fit: Patients without a diagnosis of tuberous sclerosis or those under 18 years old may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide insights into the mechanisms behind skin tumors in tuberous sclerosis, potentially leading to improved management and treatment options for affected patients.
How similar studies have performed: While there have been studies on tuberous sclerosis, this specific investigation into the molecular basis of skin tumors is novel and may provide new insights.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Joel Moss, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
- Study coordinator: Tatyana A Worthy, R.N.
- Email: worthyt@mail.nih.gov
- Phone: (301) 827-1376
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.