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 : August 4, 2022
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Sponsor:
National Cancer Institute (NCI)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )
Tracking Information | |||||||||
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First Submitted Date | November 3, 1999 | ||||||||
First Posted Date | November 4, 1999 | ||||||||
Last Update Posted Date | August 4, 2022 | ||||||||
Actual Study Start Date | May 10, 1999 | ||||||||
Primary Completion Date | Not Provided | ||||||||
Current Primary Outcome Measures |
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
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Original Primary Outcome Measures | Not Provided | ||||||||
Change History | |||||||||
Current Secondary Outcome Measures |
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Original Secondary Outcome Measures | Not Provided | ||||||||
Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
Descriptive Information | |||||||||
Brief Title | Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy | ||||||||
Official Title | Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy | ||||||||
Brief Summary | 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. | ||||||||
Detailed Description | 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. | ||||||||
Study Type | Observational | ||||||||
Study Design | Observational Model: Case-Control Time Perspective: Prospective |
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Target Follow-Up Duration | Not Provided | ||||||||
Biospecimen | Not Provided | ||||||||
Sampling Method | Non-Probability Sample | ||||||||
Study Population | 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.@@@Healthy volunteers or NIH staff will be recruited through the Program for Healthy Volunteers (CRVP@mail.cc.nih.gov), through the Patient Recruitment and Public Liaison Office (prpl@mail.cc.nih.gov), or as a self-referral through the clinicaltrials.gov web site (http://clinicaltrials.gov). Healthy volunteers may also be approached by a member of the LCBG, NCI regarding interest in participating on this protocol. | ||||||||
Condition |
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Intervention | Not Provided | ||||||||
Study Groups/Cohorts |
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Publications * |
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||||||
Recruitment Status | Recruiting | ||||||||
Estimated Enrollment |
750 | ||||||||
Original Enrollment |
500 | ||||||||
Study Completion Date | Not Provided | ||||||||
Primary Completion Date | Not Provided | ||||||||
Eligibility Criteria |
EXCLUSION CRITERIA: -Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for laboratory studies. |
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Sex/Gender |
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Ages | 42 Days and older (Child, Adult, Older Adult) | ||||||||
Accepts Healthy Volunteers | Yes | ||||||||
Contacts |
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Listed Location Countries | United States | ||||||||
Removed Location Countries | |||||||||
Administrative Information | |||||||||
NCT Number | NCT00001813 | ||||||||
Other Study ID Numbers | 990099 99-C-0099 |
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Has Data Monitoring Committee | Not Provided | ||||||||
U.S. FDA-regulated Product |
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IPD Sharing Statement | Not Provided | ||||||||
Current Responsible Party | National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ) | ||||||||
Original Responsible Party | Not Provided | ||||||||
Current Study Sponsor | National Cancer Institute (NCI) | ||||||||
Original Study Sponsor | Same as current | ||||||||
Collaborators | Not Provided | ||||||||
Investigators |
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PRS Account | National Institutes of Health Clinical Center (CC) | ||||||||
Verification Date | March 28, 2022 |