Investigating skin tumors in patients with tuberous sclerosis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Understanding genetic causes of neuroendocrine tumors in Mexican patients

  This study is trying to find out the genetic changes that cause neuroendocrine tumors in Mexican patients to help develop better treatments.

  Recruiting at 3 sites Universidad Nacional Autonoma de Mexico · Mexico City, Mexico City and 2 other locations · NCT06523582

• Understanding reproductive counseling for patients with skin genetic disorders

  This study is trying to understand how people with skin genetic disorders and their partners make decisions about having children, while also looking at what doctors know and think about these choices.

  Recruiting Maastricht University Medical Center · Maastricht, Limburg · NCT06330350

• Comparing Sertraline and Placebo for Treating Anxiety in Children with Neurodevelopmental Disorders

  This study is testing if the medication sertraline can help reduce anxiety in children and teens aged 8-17 with neurodevelopmental disorders like autism and Fragile X syndrome compared to a placebo.

  Recruiting at 6 sites Phase 2 Holland Bloorview Kids Rehabilitation Hospital · Calgary, Alberta and 6 other locations · NCT06081348

• National Registry for Rare Kidney Diseases

  This study is collecting health information from people with rare kidney diseases to help improve treatments and create better care guidelines.

  Recruiting UK Kidney Association · Bristol, South West · NCT06065852

• Collection of biosamples and clinical data for tuberous sclerosis and lymphangioleiomyomatosis

  This study is collecting blood and tissue samples from people with tuberous sclerosis and lymphangioleiomyomatosis to help researchers learn more about these conditions and how they affect the body over time.

  Recruiting at 25 sites National Tuberous Sclerosis Association · Birmingham, Alabama and 25 other locations · NCT05676099

• Observing the health management of patients with rare genetic syndromes

  This study looks at how patients with rare genetic syndromes like Prader-Willi and Klinefelter manage their health as they move from children's care to adult care to see what support they need.

  Recruiting Erasmus Medical Center · Rotterdam, South Holland · NCT04463316

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.