pseudoxanthoma elasticum
Information
- Disease name
- pseudoxanthoma elasticum
- Disease ID
- DOID:2738
- Description
- "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system." [url:http\://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum, url:http\://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05030831 | Active, not recruiting | Phase 1/Phase 2 | Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ABCC6 Deficiency Causing PXE | April 11, 2022 | December 31, 2024 |
| NCT00470977 | Completed | Phase 1/Phase 2 | Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy | May 2007 | December 2010 |
| NCT00555113 | Completed | Evolution of Visual Impairment During Pseudoxanthoma Elasticum | January 2000 | September 2007 | |
| NCT00341419 | Completed | Genetic Analysis of Patients With Pseudoxanthoma Elasticum | February 16, 2005 | May 14, 2013 | |
| NCT01446393 | Completed | Functional and Structural Characterization of Arteriopathy in Pseudoxanthoma Elasticum (PXE) | May 2010 | December 2011 | |
| NCT05025722 | Completed | Pseudoxanthoma Elasticum (PXE) Natural History Biomarkers in PXE Individuals and Their Biological Non-PXE Siblings | August 30, 2021 | August 11, 2022 | |
| NCT05569252 | Completed | Phase 2 | A Study of DS-1211b in Individuals With PseudoXanthoma Elasticum | October 20, 2022 | November 15, 2023 |
| NCT05246189 | Completed | Employment of Patients With Pseudoxanthoma Elasticum | April 7, 2022 | September 9, 2022 | |
| NCT02537054 | Completed | Phase 2 | Intravitreal Aflibercept for Therapy of Patients With Pseudoxanthoma Elasticum (PXE) | September 2015 | July 2, 2018 |
| NCT03070860 | Completed | N/A | What's Happen Under the Calcification Process in Pseudoxanthoma Elasticum | November 2016 | December 2017 |
| NCT01525875 | Completed | Phase 2 | Magnesium Supplements In The Treatment Of Pseudoxanthoma Elasticum (PXE) | August 2012 | March 2015 |
| NCT06462547 | Not yet recruiting | Phase 2 | ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency | June 2024 | December 2030 |
| NCT05832580 | Recruiting | Phase 3 | The Prevention of Systemic Ectopic Mineralization in Pseudoxanthoma Elasticum | April 26, 2023 | April 29, 2027 |
| NCT04868578 | Recruiting | N/A | PPI Supplementation to Fight ECtopIc Calcification in PXE | December 13, 2022 | September 1, 2027 |
| NCT05662085 | Recruiting | Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration | October 1, 2022 | October 31, 2025 | |
| NCT02108392 | Unknown status | Characterization of Pseudoxanthoma Elasticum | January 2014 | December 2018 | |
| NCT01731080 | Unknown status | Arterial Wall Calcium Load in Pseudoxanthoma Elasticum | January 2012 | July 2013 | |
| NCT01446380 | Unknown status | Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort | June 2008 | January 2021 | |
| NCT03758534 | Unknown status | Natural History of GACI With or Without ARHR2 or PXE | March 15, 2018 | December 31, 2019 | |
| NCT03364504 | Unknown status | N/A | Biological Collection of Kidney Cells | January 2018 | December 2018 |
| NCT03813550 | Unknown status | N/A | Intestinal Microbiota and Vitamin K Levels in PXE Patients (IMPROVE Study) | January 21, 2019 | January 30, 2020 |
| NCT04441671 | Withdrawn | Phase 2 | Oral Pyrophosphate Absorption in PXE Disease | December 8, 2020 | April 1, 2021 |
- Exact Synonym (Disease Ontology)
- Gronblad-Strandberg syndrome
- Disase is a (Disease Ontology)
- DOID:65
- Cross Reference ID (Disease Ontology)
- GARD:9643
- Cross Reference ID (Disease Ontology)
- MESH:D011561
- Cross Reference ID (Disease Ontology)
- MIM:177850
- Cross Reference ID (Disease Ontology)
- MIM:264800
- Cross Reference ID (Disease Ontology)
- NCI:C85036
- Cross Reference ID (Disease Ontology)
- ORDO:758
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:7109007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0033847
- OrphaNumber from OrphaNet (Orphanet)
- 758
- MedGen unique identifier (MedGen Concept name)
- 18733
- MedGen concept unique identifier (MedGen Concept name)
- C0033847
- MeSH unique ID (MeSH (Medical Subject Headings))
- D011561