Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
![]() |
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT00001813 |
Recruitment Status :
Recruiting
First Posted : November 4, 1999
Last Update Posted : December 4, 2020
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
Condition or disease |
---|
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 |
---|
1
Patients with XP, XP/CS, CS, or TTD
|
2
Family members of patients with XP, XP/CS, CS, or TTD
|
3
Healthy Volunteers
|
- Identify patients with genetic diseases [ Time Frame: Up to 3 days ]Proportion of patients with four rare genetic diseases; xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD)
- Diagnosis confirmation [ Time Frame: up to 3 days ]-To confirm suspected cases of XP, XP/CS, CS, TTD, XP/TTD and other 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 other overlap syndromes
- Tissue collection [ Time Frame: up to 3 days ]obtain tissue (skin, blood, hair or buccal cells) from XP, XP/CS, CS, TTD, XP/TTD and other overlap syndromes patients, their first-degree 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, XP/CS, CS, TTD, XP/TTD and other overlap syndromes and to attempt to correlate the defects with the clinical features
- overall survival [ Time Frame: yearly ]follow the clinical course of selected patients with XP, CS, XP/CS, TTD, XP/TTD and other

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 1 Month and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
- INCLUSION CRITERIA:
- 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.
EXCLUSION CRITERIA:
Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for laboratory studies.
positive pregnancy test in healthy volunteers

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: | December 4, 2020 |
Last Verified: | December 2, 2020 |
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 |
Skin Neoplasms Xeroderma Pigmentosum Cockayne Syndrome Ichthyosis Trichothiodystrophy Syndromes Syndrome Disease Pathologic Processes Congenital Abnormalities Neoplasms by Site Neoplasms Skin Diseases Skin Abnormalities Infant, Newborn, Diseases Keratosis |
Precancerous Conditions Skin Diseases, Genetic Genetic Diseases, Inborn Photosensitivity Disorders Pigmentation Disorders DNA Repair-Deficiency Disorders Metabolic Diseases Dwarfism Bone Diseases, Developmental Bone Diseases Musculoskeletal Diseases Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Nervous System Diseases Abnormalities, Multiple |