xeroderma pigmentosum
Information
- Disease name
- xeroderma pigmentosum
- Disease ID
- DOID:0050427
- Description
- "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair." [url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00001813 | Active, not recruiting | Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy | May 10, 1999 | ||
| NCT03445052 | Completed | N/A | XPAND Trial: Enhancing XP Photoprotection Activities - New Directions | March 30, 2018 | January 30, 2020 |
| NCT00046189 | Completed | Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum | April 7, 2003 | January 5, 2024 | |
| NCT00555633 | Completed | Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients | October 2004 | February 2006 | |
| NCT06330324 | Enrolling by invitation | Reproductive Options in Inherited Skin Diseases | January 1, 2024 | September 1, 2026 | |
| NCT05159752 | Recruiting | Phase 2 | A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum (XP) | October 19, 2021 | October 2024 |
| NCT05370235 | Recruiting | Phase 2 | A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum C and V | March 28, 2022 | December 2024 |
| NCT05484570 | Recruiting | Natural History Study for DNA Repair Disorders | October 1, 2022 | August 2025 | |
| NCT01123694 | Unknown status | Xeroderma Pigmentosum Patient Experiences | July 2009 | July 2010 | |
| NCT04500548 | Withdrawn | Phase 1 | Testing the Combination of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) in Children, Adolescent, and Young Adult Patients With Relapsed/Refractory Cancers That Have an Increased Number of Genetic Changes, The 3CI Study | January 28, 2021 | June 21, 2022 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:7910
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q82.1
- Cross Reference ID (Disease Ontology)
- MESH:D014983
- Cross Reference ID (Disease Ontology)
- NCI:C3452
- Cross Reference ID (Disease Ontology)
- ORDO:910
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:44600005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0043346
- OrphaNumber from OrphaNet (Orphanet)
- 910
- ICD10 preferred id (Insert disease from ICD10)
- D0014106
- ICD10 class code (Insert disease from ICD10)
- Q82.1
- MeSH unique ID (MeSH (Medical Subject Headings))
- D014983