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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 : December 4, 2020
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Tracking Information
First Submitted Date November 3, 1999
First Posted Date November 4, 1999
Last Update Posted Date December 4, 2020
Actual Study Start Date May 10, 1999
Primary Completion Date Not Provided
Current Primary Outcome Measures
 (submitted: December 16, 2017)
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)
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures
 (submitted: March 20, 2020)
  • 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
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 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, TTD, XP/TTD and other overlap syndromes to follow their clinical course. We will obtain tissue (skin, blood, hair, buccal cells) 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.
Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Prospective
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
  • Cockayne Syndrome
  • Skin Neoplasms
  • Xeroderma Pigmentosum
  • Trichothiodystrophy
  • Genodermatosis
Intervention Not Provided
Study Groups/Cohorts
  • 1
    Patients with XP, XP/CS, CS, or TTD
  • 2
    Family members of patients with XP, XP/CS, CS, or TTD
  • 3
    Healthy Volunteers
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: October 7, 2020)
750
Original Enrollment
 (submitted: June 23, 2005)
500
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility Criteria
  • 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

Sex/Gender
Sexes Eligible for Study: All
Ages 1 Month and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
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
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00001813
Other Study ID Numbers 990099
99-C-0099
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )
Study Sponsor National Cancer Institute (NCI)
Collaborators Not Provided
Investigators
Principal Investigator: Kenneth H Kraemer, M.D. National Cancer Institute (NCI)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date December 2, 2020