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History of Changes for Study: NCT00001813
Examination of Clinical and Laboratory Abnormalities in Patients with Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Latest version (submitted September 27, 2022) on ClinicalTrials.gov
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Study Record Versions
Version A B Submitted Date Changes
1 June 23, 2005 None (earliest Version on record)
2 June 19, 2006 Study Status, Study Identification, References, Contacts/Locations, Eligibility, Study Design and Oversight
3 March 3, 2008 Study Design and Study Status
4 September 29, 2011 Contacts/Locations, Study Status, References, Study Design and Conditions
5 December 30, 2011 Contacts/Locations and Study Status
6 March 14, 2012 Contacts/Locations and Study Status
7 June 9, 2012 Study Status
8 May 1, 2013 Contacts/Locations and Study Status
9 May 23, 2013 Study Status
10 March 14, 2014 Study Status
11 April 19, 2014 References, Conditions, Eligibility, Outcome Measures, Study Design and Study Status
12 April 24, 2014 References and Study Status
13 April 25, 2014 Study Status
14 November 11, 2014 Sponsor/Collaborators and Study Status
15 March 19, 2015 References and Study Status
16 March 31, 2015 Study Status
17 July 28, 2015 Eligibility, Study Design, Study Description and Study Status
18 February 10, 2016 Study Status and Eligibility
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20 August 31, 2016 References and Study Status
21 September 24, 2016 Study Status
22 November 23, 2016 Contacts/Locations and Study Status
23 December 1, 2016 Study Status
24 January 11, 2017 Study Status
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27 January 24, 2017 Study Status
28 April 20, 2017 Study Status and Study Design
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30 June 30, 2017 Study Status
31 July 19, 2017 Study Status
32 September 22, 2017 Study Status
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34 October 18, 2017 Study Status
35 December 16, 2017 Outcome Measures, Eligibility and Study Status
36 December 19, 2017 Study Status
37 February 13, 2018 Study Description and Study Status
38 February 16, 2018 Study Description and Study Status
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40 March 30, 2018 Study Description and Study Status
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44 June 27, 2018 Study Description and Study Status
45 July 25, 2018 Study Description and Study Status
46 July 26, 2018 Study Description and Study Status
47 August 8, 2018 Oversight and Study Status
48 August 16, 2018 Study Description and Study Status
49 August 28, 2018 Study Description and Study Status
50 September 19, 2018 Study Description and Study Status
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54 November 21, 2018 Study Description and Study Status
55 December 1, 2018 Study Description and Study Status
56 December 4, 2018 Study Description and Study Status
57 December 12, 2018 Eligibility, Study Status, Groups and Interventions, Study Design, Conditions and Study Description
58 December 14, 2018 Study Description and Study Status
59 December 27, 2018 Study Status, References and Eligibility
60 January 18, 2019 Study Description and Study Status
61 January 24, 2019 Study Description and Study Status
62 January 26, 2019 Study Description and Study Status
63 February 1, 2019 Study Description and Study Status
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78 July 30, 2019 Study Status
79 July 31, 2019 Eligibility and Study Status
80 August 1, 2019 Oversight and Study Status
81 August 9, 2019 Study Description and Study Status
82 September 5, 2019 Study Description and Study Status
83 September 7, 2019 Study Description and Study Status
84 September 11, 2019 Study Description and Study Status
85 September 14, 2019 Study Description and Study Status
86 September 17, 2019 Study Description and Study Status
87 November 14, 2019 Study Description and Study Status
88 November 21, 2019 Study Description and Study Status
89 December 28, 2019 Outcome Measures and Study Status
90 January 7, 2020 Study Status and Outcome Measures
91 January 9, 2020 Study Status
92 February 21, 2020 Study Description and Study Status
93 February 26, 2020 Study Description and Study Status
94 March 18, 2020 Eligibility and Study Status
95 March 19, 2020 Eligibility and Study Status
96 March 20, 2020 Study Status and Outcome Measures
97 July 29, 2020 Study Description and Study Status
98 August 5, 2020 Study Description and Study Status
99 August 11, 2020 Contacts/Locations and Study Status
100 August 12, 2020 Study Status
101 October 7, 2020 Study Design and Study Status
102 October 8, 2020 Study Status
103 November 4, 2020 Study Description and Study Status
104 November 5, 2020 Study Description and Study Status
105 December 3, 2020 Study Status
106 May 19, 2021 Study Description and Study Status
107 May 20, 2021 Study Description and Study Status
108 June 3, 2021 Eligibility, Outcome Measures, Groups and Interventions, Study Description and Study Status
109 July 7, 2021 Study Status
110 July 15, 2021 Study Status
111 August 25, 2021 Study Description and Study Status
112 August 27, 2021 Study Description and Study Status
113 August 28, 2021 Study Description and Study Status
114 September 1, 2021 Study Description and Study Status
115 September 2, 2021 Study Status
116 October 23, 2021 Study Status
117 December 15, 2021 Conditions and Study Status
118 January 25, 2022 Study Description and Study Status
119 January 26, 2022 Study Description and Study Status
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204 September 14, 2022 Study Description and Study Status
205 September 16, 2022 Study Description and Study Status
206 September 24, 2022 Study Description and Study Status
207 September 27, 2022 Study Status and Study Description
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Study NCT00001813
Submitted Date:  June 23, 2005 (v1)

Open or close this module Study Identification
Unique Protocol ID: 990099
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
Secondary IDs: 99-C-0099
Open or close this module Study Status
Record Verification: January 9, 2006
Overall Status: Recruiting
Study Start: April 26, 1999
Primary Completion:
Study Completion:
First Submitted: November 3, 1999
First Submitted that
Met QC Criteria:
November 3, 1999
First Posted: November 4, 1999 [Estimate]
Last Update Submitted that
Met QC Criteria:
June 23, 2005
Last Update Posted: June 24, 2005 [Estimate]
Open or close this module Sponsor/Collaborators
Sponsor: National Cancer Institute (NCI)
Responsible Party:
Collaborators:
Open or close this module Oversight
U.S. FDA-regulated Drug:
U.S. FDA-regulated Device:
Data Monitoring:
Open or close this module Study Description
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. A number of these patients have been identified in Israel. 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.
Open or close this module Conditions
Conditions: Cockayne Syndrome
Skin Neoplasm
Xeroderma Pigmentosum
Keywords: Abnormal Hair
Human Mutations
Neurologic Degeneration
Retinopathy
Skin Cancer
Open or close this module Study Design
Study Type: Observational
Time Perspective:
Biospecimen Retention:
Biospecimen Description:
Enrollment: 500
Number of Groups/Cohorts 0
Open or close this module Groups and Interventions
Open or close this module Outcome Measures
Open or close this module Eligibility
Minimum Age:
Maximum Age:
Sex: All
Gender Based:
Accepts Healthy Volunteers: Yes
Criteria: ELIGIBILITY CRITERIA:Patients with XP, XP/CS, CS, or TTD of any age, gender, race or HIV status are eligible for this study. 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.INCLUSION CRITERIA:On referral, patients will be considered for inclusion in the study:If they have clinical documentation of typical features of XP, XP/CS, CS or TDD 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.EXCLUSION CRITERIA:Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for laboratory studies.
Open or close this module Contacts/Locations
Locations: United States, Maryland
National Cancer Institute (NCI)
[Recruiting]
Bethesda, Maryland, United States, 20892
Contact:Contact: Clinical Studies Support Center/NCI 8886241937 ncicssc@mail.nih.gov
Open or close this module IPDSharing
Plan to Share IPD:
Open or close this module References
Citations: 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. PubMed 1719400
Berkel AI, Kiran O. Immunological studies in children with xeroderma pigmentosum. Turk J Pediatr. 1974 Apr;16(2):43-52. PubMed 4469851
Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A. MRI in Cockayne syndrome type I. Neuroradiology. 1989;31(3):276-7. PubMed 2779780
Links: Description: Detailed Web Page
Available IPD/Information:

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