erythropoietic protoporphyria
Information
- Disease name
- erythropoietic protoporphyria
- Disease ID
- DOID:13270
- Description
- "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue." [url:http\://en.wikipedia.org/wiki/Erythropoietic_protoporphyria]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05308472 | Active, not recruiting | Phase 2 | Study of Bitopertin to Evaluate the Safety, Tolerability, Efficacy, and PPIX Concentrations in Participants With EPP | October 31, 2022 | June 2024 |
| NCT00004940 | Completed | Phase 3 | Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria | May 1996 | September 2001 |
| NCT00979745 | Completed | Phase 3 | Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP) | September 2009 | May 2011 |
| NCT01097044 | Completed | Phase 2 | Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) | April 2010 | April 2011 |
| NCT01422915 | Completed | Phase 2/Phase 3 | Sorbent Therapy of the Cutaneous Porphyrias | May 2011 | March 2012 |
| NCT01605136 | Completed | Phase 3 | Phase III Confirmatory Study in Erythropoietic Protoporphyria | May 2012 | July 2013 |
| NCT01688895 | Completed | Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact | July 2012 | July 1, 2019 | |
| NCT02979249 | Completed | N/A | Oral Iron for Erythropoietic Protoporphyrias | December 2016 | July 19, 2019 |
| NCT03682731 | Completed | Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria | April 1, 2017 | August 1, 2017 | |
| NCT04053270 | Completed | Phase 3 | Multicentre Phase III Erythropoietic Protoporphyria Study | May 2007 | December 9, 2009 |
| NCT04578496 | Completed | Phase 3 | A Safety Extension Study in Patients With Erythropoietic Protoporphyria (EPP) | July 11, 2011 | February 27, 2014 |
| NCT00004831 | Completed | N/A | Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria | October 1996 | July 1998 |
| NCT05572125 | Completed | Iron Therapy in Erythropoietic Protoporphyria | October 17, 2022 | February 14, 2023 | |
| NCT05883748 | Enrolling by invitation | Phase 2/Phase 3 | Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP | August 31, 2023 | June 2028 |
| NCT06388642 | Recruiting | Phase 1/Phase 2 | Pharmacokinetics of Afamelanotide in EPP Patients | March 7, 2024 | October 1, 2024 |
| NCT05780840 | Recruiting | N/A | Protection Against Visible Light by Dihydroxyacetone in Erythropoietic Protoporphyria | February 23, 2023 | September 2024 |
| NCT05020184 | Recruiting | Phase 2 | Effect of Oral Cimetidine in the Protoporphyrias | June 14, 2022 | September 2025 |
| NCT00206869 | Unknown status | N/A | Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria | January 2003 |
- Disase is a (Disease Ontology)
- DOID:3133
- Cross Reference ID (Disease Ontology)
- GARD:4527
- Cross Reference ID (Disease Ontology)
- ICD10CM:E80.0
- Cross Reference ID (Disease Ontology)
- MESH:D046351
- Cross Reference ID (Disease Ontology)
- MIM:177000
- Cross Reference ID (Disease Ontology)
- MIM:300752
- Cross Reference ID (Disease Ontology)
- NCI:C84698
- Cross Reference ID (Disease Ontology)
- ORDO:79278
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:51022005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0162568
- Exact Synonym (Disease Ontology)
- EPP
- Exact Synonym (Disease Ontology)
- Protoporphyria
- MedGen concept unique identifier (MedGen Concept name)
- C0162568
- MedGen unique identifier (MedGen Concept name)
- 56455