MedDataX Logo

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

NCT ID: NCT00001813

Last Updated: 2025-12-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

709 participants

Study Classification

OBSERVATIONAL

Study Start Date

1999-05-10

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Cockayne Syndrome Skin Neoplasms Xeroderma Pigmentosum Trichothiodystrophy Syndromes Genodermatosis

Keywords

Explore important study keywords that can help with search, categorization, and topic discovery.

Xeroderma Pigmentosum Trichothiodystrophy Cockayne Syndrome Skin Cancer DNA Repair Natural History

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

1

Subjects with clinical and/or laboratory documentation of typical features or suggestiveclinical features of XP, CS, TTD, or overlap syndromes

No interventions assigned to this group

2

Family members of patients with XP, CS, TTD, or overlap syndromes

No interventions assigned to this group

3

Healthy volunteers

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Subjects age 6 weeks and above:

* with clinical and/or laboratory documentation of typical features or suggestive clinical features of XP, CS, TTD, or overlap syndromes or
* that are first degree relatives or other family members of participants with XP, CS, TTD, or overlap syndromes
* Healthy volunteers of age 1 year and above (including NIH employees) willing to donate blood, skin, buccal cells, or hair.
* 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.
Minimum Eligible Age

6 Weeks

Maximum Eligible Age

100 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

National Cancer Institute (NCI)

NIH

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Michael R Sargen, M.D.

Role: PRINCIPAL_INVESTIGATOR

National Cancer Institute (NCI)

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

Site Status

Countries

Review the countries where the study has at least one active or historical site.

United States

References

Explore related publications, articles, or registry entries linked to this study.

Barrett SF, Robbins JH, Tarone RE, Kraemer KH. Evidence for defective repair of cyclobutane pyrimidine dimers with normal repair of other DNA photoproducts in a transcriptionally active gene transfected into Cockayne syndrome cells. Mutat Res. 1991 Nov;255(3):281-91. doi: 10.1016/0921-8777(91)90032-k.

Reference Type BACKGROUND
PMID: 1719400 (View on PubMed)

Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A. MRI in Cockayne syndrome type I. Neuroradiology. 1989;31(3):276-7. doi: 10.1007/BF00344359.

Reference Type BACKGROUND
PMID: 2779780 (View on PubMed)

Merideth M, Tamura D, Angra D, Khan SG, Ferrell J, Goldstein AM, DiGiovanna JJ, Kraemer KH. Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging. Obstet Gynecol. 2019 Oct;134(4):814-819. doi: 10.1097/AOG.0000000000003490.

Reference Type DERIVED
PMID: 31503159 (View on PubMed)

Atkinson EC, Thiara D, Tamura D, DiGiovanna JJ, Kraemer KH, Hadigan C. Growth and nutrition in children with trichothiodystrophy. J Pediatr Gastroenterol Nutr. 2014 Oct;59(4):458-64. doi: 10.1097/MPG.0000000000000458.

Reference Type DERIVED
PMID: 24918982 (View on PubMed)

Related Links

Access external resources that provide additional context or updates about the study.

https://clinicalstudies.info.nih.gov/cgi/detail.cgi?B_1999-C-0099.html

NIH Clinical Center Detailed Web Page

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

990099

Identifier Type: -

Identifier Source: org_study_id

NCT00004044

Identifier Type: -

Identifier Source: nct_alias

99-C-0099

Identifier Type: -

Identifier Source: secondary_id