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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 17, 2018
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

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.

Condition or disease
Cockayne Syndrome Skin Neoplasms Xeroderma Pigmentosum Trichothiodystrophy Genodermatosis

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
Estimated Enrollment : 700 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
Study Start Date : April 27, 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



Primary Outcome Measures :
  1. 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)



Information from the National Library of Medicine

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Ages Eligible for Study:   1 Month to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.@@@@@@
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 (including NIH employees) willing to donate blood, skin, buccal cells, or hair.

  • Pregnant women may be included in the study, but will not receive X-ray, CT, or MRI testing, unless medically indicated, because of possible risks to the fetus
  • 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.


Information from the National Library of Medicine

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


Contacts
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

Locations
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      
Sponsors and Collaborators
National Cancer Institute (NCI)
Investigators
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: December 17, 2018
Last Verified: December 11, 2018

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:
Syndrome
Skin Neoplasms
Ichthyosis
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