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NCT Number: NCT00001813

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. 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.

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Key information

Conditions

Cockayne Syndrome Abnormalities, Multiple Bone Diseases Bone Diseases, Developmental Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Dwarfism Genetic Diseases, Inborn Genodermatosis Heredodegenerative Disorders, Nervous System Metabolic Diseases Musculoskeletal Diseases Neoplasms Neoplasms by Site Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases Photosensitivity Disorders Pigmentation Disorders Precancerous Conditions Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin Neoplasms Skin and Connective Tissue Diseases Trichothiodystrophy Syndromes Xeroderma Pigmentosum

Age range

6 week–100 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

  • 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.

Treatment and study plan

Primary outcomes

  1. Identify patients with genetic diseases

    Time frame: Up to 3 days

    Proportion of patients with three rare genetic diseases; xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD)and overlap syndromes

Secondary outcomes

  1. Diagnosis confirmation

    Time frame: up to 3 days

    -To confirm suspected cases of XP, CS, TTD, XP/TTD or overlap syndrome patients by review of clinical records, by clinical examination and by laboratory testing -To document presence (or absence) of cancers (skin, eye, tongue, or internal) in XP, XP/CS, CS, TTD, XP/TTD and other overlap syndrome patients-To document atypical clinical features or unusual environmental exposures of patients with XP, XP/CS, CS, TTD, XP/TTD and otheroverlap syndromes

  2. Tissue collection

    Time frame: up to 3 days

    obtain tissue (skin, blood, hair or buccal cells) from XP, CS, TTD, XP/TTD or overlap syndrome patients, their first-degree relatives and healthy volunteers for establishment of cell cultures and for examination of DNA repair and genetic analysis

  3. identify molecular defects

    Time frame: up to 3 days

    identify molecular defects in the DNA repair or other genes in cells from patients with XP, CS, TTD, XP/TTD or overlap syndromes and toattempt to correlate the defects with the clinical features

  4. overall survival

    Time frame: yearly

    follow the clinical course of selected patients with XP, CS, TTD, XP/TTD or overlap syndromes

Sponsors and collaborators

Lead sponsor

National Cancer Institute (NCI)

Nih

Registry information

Important dates

Study start
1999
First posted
Nov 4, 1999
Registry last updated
Jul 28, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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