Ignite Creation Date:
2024-05-05 @ 10:00 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001975
Status:
RECRUITING
Last Update Posted:
2024-06-28
First Post:
2000-01-20
Brief Title:
Study of Skin Tumors in Tuberous Sclerosis
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis
Status:
RECRUITING
Status Verified Date:
2024-07-26
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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
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
Detailed Description:
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 eg 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 00-H-0051 | None | None | None |