Ignite Creation Date:
2024-05-05 @ 11:21 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001813
Status:
COMPLETED
Last Update Posted:
2024-07-08
First Post:
1999-11-03
Brief Title:
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair Xeroderma Pigmentosum Cockayne Syndrome or Trichothiodystrophy
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair Xeroderma Pigmentosum Cockayne Syndrome or Trichothiodystrophy
Status:
COMPLETED
Status Verified Date:
2024-07-30
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:
Four rare genetic diseases xeroderma pigmentosum XP Cockayne syndrome CS the XPCS complex and trichothiodystrophy TTD have defective DNA excision repair although only XP has increased cancer susceptibility We plan to perform careful clinical examination of selected patients with XP XPCS CS or TTD and follow their clinical course We will obtain tissue skin blood hair buccal swabs for laboratory examination of DNA repair and for genetic analysis We hope to be able to correlate these laboratory abnormalities with the clinical features to better understand the mechanism of cancer prevention by DNA repair Patients will be offered counseling and education for cancer control
Detailed Description:
Three rare genetic diseases xeroderma pigmentosum XP Cockayne syndrome CS and trichothiodystrophy TTD have defective DNA excision repair although only XP has increased cancer susceptibility We plan to perform careful clinical examination of selected patients with XP CS TTD or overlap syndromes to follow their clinical course We will obtain tissue skin blood hair or buccal cells for laboratory examination of DNA repair and for histologic protein biochemical and genetic analysis We hope to be able to correlate these laboratory abnormalities with the clinical features to better understand the mechanism of cancer prevention by DNA repair Patients will be offered counseling and education for cancer control
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 |
|---|---|---|---|
| 99-C-0099 | None | None | None |