Genetic Study of Skin Tumors in Tuberous Sclerosis Patients
The study aims to analyze tissue samples from patients with tuberous sclerosis (TSC) to identify genetically altered cells and assess factors that contribute to tumor growth in skin lesions. Specifically, it plans to utilize loss of heterozygosity (LOH) studies on microdissected tumor cells.
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- Human efficacy
- Not yet assessed
- Mechanism
- Not yet assessed
- Evidence strength
- Not yet assessed
- Outcome
- Not yet assessed
Why it matters
Understanding the genetic changes associated with skin tumors in TSC could provide insights into the molecular mechanisms driving these tumors, potentially guiding future research.
What this does not prove
There are no reported results yet, and the study's design and methods remain unverified as peer-reviewed findings have not been published.
Next milestone
No next milestone was established from the available source.
Study facts
- Study design
- Not reported
- Participants / samples
- Not reported
- Randomised
- Not reported
- Controlled
- Not reported
- Primary endpoint met
- Not reported
- Relevant MS type
- Not reported
- Publication date
- Not reported
- Evidence reviewed
- Trial registry record
- Regulatory approval
- Not reported
- Research areas
- Not classified
Original sources
- Trial registrationStudy of Skin Tumors in Tuberous Sclerosis ↗
Supporting passages (6)
subjects"studyPopulation": "Patients will be those already diagnosed with TSC (definite or possible) based on clinical criteria and/or genetic testing, and ranging in age from 18 to 90 years old.",
peer reviewedPublication date: unknown.
interventionThose with skin tumors will be asked to undergo biopsy (tissue removal) of up to eight lesions, under a local anesthetic, for research purposes.
primary endpoint"measure": "1.Identify the tumor cells in cutaneous and mucosal tumors in patients with TSC through LOH studies on microdissected cell populations",
findingsSpecifically, we plan to identify the genetically altered cells in these hamartomatous lesions, and to quantify factors (e.g.
limitationsTrial registry record. Publication date: unknown. No results are posted. Planned enrolment and endpoints are not findings.
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