Clinical trial · Observational
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260929-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (5)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cockayne Syndrome | — | UNRESOLVED | — |
| Genodermatosis | — | UNRESOLVED | — |
| Skin Neoplasms | Skin Neoplasm | ONTOLOGY_EXACT | 0.98 |
| Trichothiodystrophy Syndromes | — | UNRESOLVED | — |
| Xeroderma Pigmentosum | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (3)
- label
- 1
- description
- Subjects with clinical and/or laboratory documentation of typical features or suggestiveclinical features of XP, CS, TTD, or overlap syndromes
- label
- 2
- description
- Family members of patients with XP, CS, TTD, or overlap syndromes
- label
- 3
- description
- Healthy volunteers
Primary outcomes (1)
- measure
- Identify patients with genetic diseases
- timeFrame
- Up to 3 days
- description
- Proportion of patients with three rare genetic diseases; xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD)and overlap syndromes
Secondary outcomes (4)
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 6 Weeks
- Maximum age
- 100 Years
Show eligibility criteria text
* 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.
References
Publications (4)
- BACKGROUNDBarrett 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. PMID 1719400
- BACKGROUNDBoltshauser 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. PMID 2779780
- DERIVEDMerideth 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. PMID 31503159
- DERIVEDAtkinson 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. PMID 24918982