Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
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ClinicalTrials.gov Identifier: NCT00001813 |
Recruitment Status :
Recruiting
First Posted : November 4, 1999
Last Update Posted : June 28, 2022
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Condition or disease |
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Cockayne Syndrome Skin Neoplasms Xeroderma Pigmentosum Trichothiodystrophy Genodermatosis |
Study Type : | Observational |
Estimated Enrollment : | 750 participants |
Observational Model: | Case-Control |
Time Perspective: | Prospective |
Official Title: | Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy |
Actual Study Start Date : | May 10, 1999 |

Group/Cohort |
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1
Subjects with clinical and/or laboratory documentation of typical features or suggestiveclinical features of XP, CS, TTD, or overlap syndromes
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2
Family members of patients with XP, CS, TTD, or overlap syndromes
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3
Healthy Volunteers
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- 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
- 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
- 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 firstdegree relatives and healthy volunteers for establishment of cell cultures and for examination of DNA repair and genetic analysis
- 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
- overall survival [ Time Frame: yearly ]follow the clinical course of selected patients with XP, CS, TTD, XP/TTD or overlap syndromes

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Ages Eligible for Study: | 42 Days and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
- INCLUSION CRITERIA:
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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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001813
Contact: Deborah E Tamura, R.N. | (240) 760-7355 | dt220a@nih.gov | |
Contact: Kenneth H Kraemer, M.D. | (240) 760-6139 | kraemerk@mail.nih.gov |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 | |
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office (888) NCI-1937 |
Principal Investigator: | Kenneth H Kraemer, M.D. | National Cancer Institute (NCI) |
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | National Cancer Institute (NCI) |
ClinicalTrials.gov Identifier: | NCT00001813 |
Obsolete Identifiers: | NCT00004044 |
Other Study ID Numbers: |
990099 99-C-0099 |
First Posted: | November 4, 1999 Key Record Dates |
Last Update Posted: | June 28, 2022 |
Last Verified: | March 28, 2022 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Xeroderma Pigmentosum Trichothiodystrophy Cockayne Syndrome |
Skin Cancer DNA Repair Natural History |
Skin Neoplasms Xeroderma Pigmentosum Cockayne Syndrome Ichthyosis Trichothiodystrophy Syndromes Syndrome Disease Pathologic Processes Congenital Abnormalities Neoplasms by Site Neoplasms Skin Diseases Precancerous Conditions Skin Abnormalities Skin Diseases, Genetic |
Genetic Diseases, Inborn Photosensitivity Disorders Pigmentation Disorders DNA Repair-Deficiency Disorders Metabolic Diseases Infant, Newborn, Diseases Keratosis Dwarfism Bone Diseases, Developmental Bone Diseases Musculoskeletal Diseases Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Nervous System Diseases Abnormalities, Multiple |