Clinical Trials


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

Study Type: Observational
Sponsors: National Cancer Institute (NCI)
Participants: 750
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.
* Consult with your doctor before enrolling in clinical trials.
National Institutes of Health Clinical Center, 9000 Rockville Pike - Recruiting
Bethesda, United States of America
Kenneth H Kraemer, M.D.
(240) 760-6139
Deborah E Tamura, R.N.
(240) 760-7355
Sex: All
Minimum Age: 4
Healthy Volunteers: Accepts Healthy Volunteers
- On referral, subjects will be considered for inclusion in the study:
If they have clinical documentation of typical features of XP, XP/CS, CS or TTD, XP/TTD or other overlap syndromes 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 or
if they are first degree relatives or other family members of patients with XP, XP/CS, CS, TTD, XP/TTD or other overlap syndromes
if they are healthy volunteers of age 1 year and above (including NIH employees) willing to donate blood, skin, buccal cells, or hair. Healthy volunteer children will not have skin biopsies performed if they are age 12 years or younger.
- Patients or legally authorized representatives must provide informed consent.
Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for laboratory studies.
positive pregnancy test in healthy volunteers

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