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
: April 2, 2018
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
Condition or disease |
---|
Cockayne Syndrome Skin Cancer Xeroderma Pigmentosum Trichothiodystrophy Genodermatosis |
Study Type : | Observational |
Estimated Enrollment : | 700 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy |
Study Start Date : | April 27, 1999 |

- 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)

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 to 99 Years (Child, Adult, Senior) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
- 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 TTD 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.

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) 760-6141 | tamurad@mail.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) |
Additional Information:
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | National Cancer Institute (NCI) |
ClinicalTrials.gov Identifier: | NCT00001813 History of Changes |
Obsolete Identifiers: | NCT00004044 |
Other Study ID Numbers: |
990099 99-C-0099 |
First Posted: | November 4, 1999 Key Record Dates |
Last Update Posted: | April 2, 2018 |
Last Verified: | December 15, 2017 |
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Xeroderma Pigmentosum Trichothiodystrophy Cockayne Syndrome Skin Cancer DNA Repair |
Additional relevant MeSH terms:
Ichthyosis Syndrome Skin Neoplasms Xeroderma Pigmentosum Cockayne Syndrome Trichothiodystrophy Syndromes Skin Diseases, Genetic Disease Pathologic Processes Neoplasms by Site Neoplasms Skin Diseases Skin Abnormalities Congenital Abnormalities Infant, Newborn, Diseases |
Keratosis Precancerous Conditions 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 |