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Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy


N/A
N/A
N/A
Open (Enrolling)
Both
Cockayne Syndrome, Skin Neoplasm, Xeroderma Pigmentosum

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Trial Information

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy


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. A number of these patients have been identified in
Israel. 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.

Inclusion Criteria


- ELIGIBILITY CRITERIA:

Patients with XP, XP/CS, CS, or TTD of any age, gender, race or HIV status are eligible
for this study. Patients will be sought by contacting professional organizations (such as
the American Academy of Dermatology-XP Task Force), lay support groups (such as the XP
Society and the Share and Care CS Support Network) or by direct referral.

INCLUSION CRITERIA:

On referral, patients will be considered for inclusion in the study:

If they have clinical documentation of typical features of XP, XP/CS, CS or TDD or;

If they have laboratory documentation of defective DNA repair, or;

If they have some suggestive clinical features and are willing to participate in the
study.

EXCLUSION CRITERIA:

Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for
laboratory studies.

Type of Study:

Observational

Study Design:

N/A

Principal Investigator

Kenneth H Kraemer, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Cancer Institute (NCI)

Authority:

United States: Federal Government

Study ID:

990099

NCT ID:

NCT00001813

Start Date:

April 1999

Completion Date:

Related Keywords:

  • Cockayne Syndrome
  • Skin Neoplasm
  • Xeroderma Pigmentosum
  • Abnormal Hair
  • Human Mutations
  • Neurologic Degeneration
  • Retinopathy
  • Skin Cancer
  • DNA Repair Disorders
  • Congenital Abnormalities
  • Neoplasms
  • Skin Neoplasms
  • Cockayne Syndrome
  • Ichthyosis
  • Xeroderma Pigmentosum
  • Trichothiodystrophy Syndromes

Name

Location

National Institutes of Health Clinical Center, 9000 Rockville PikeBethesda, Maryland  20892