Official Title
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Brief Title
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Protocol ID
NCT00001813
Lead Sponsor
National Cancer Institute (NCI)
Brief Summary
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS
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, XP/CS, 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 Period
Enrollment Count
709 participants
Eligibility Criteria
- INCLUSION CRITERIA:
- Subjects age 6 weeks and above:
- with clinical and/or laboratory documentation of typical features or suggestive
clinical features of XP, CS, TTD, or overlap syndromes or
- that are first degree relatives or other family members of participants with
XP, CS, TTD, or overlap syndromes
- Healthy volunteers of age 1 year and above (including NIH employees) willing to
donate blood, skin, buccal cells, or hair.
- Patients or legally authorized representatives must provide informed consent.
EXCLUSION CRITERIA:
-Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for
laboratory studies.
Filters
Cockayne Syndrome
Skin Neoplasms
Xeroderma Pigmentosum
Trichothiodystrophy Syndromes
Genodermatosis
COMPLETED
CHILD
ADULT
OLDER_ADULT