Erythropoietic protoporphyria
diseaseOn this page
Also known as EPP (erythropoietic protoporphyria porphyria)
Summary
Erythropoietic protoporphyria (MONDO:0001676) is a disease and 26 clinical trials. Top therapeutic interventions include afamelanotide, cysteine hydrochloride, and cimetidine. A subtype of hepatic porphyria — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Clinical trials: 26
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | erythropoietic protoporphyria |
| Mondo ID | MONDO:0001676 |
| MeSH | D046351 |
| OMIM | 177000 |
| Orphanet | 659681 |
| DOID | DOID:13270 |
| ICD-11 | 1642941362 |
| SNOMED CT | 51022005 |
| UMLS | C0162568 |
| MedGen | 56455 |
| GARD | 0007476 |
| Is cancer (heuristic) | no |
Also known as: EPP (erythropoietic protoporphyria porphyria)
Data availability: 4 cell lines.
Disease family
This is a subtype of hepatic porphyria. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › liver disorder › hepatic porphyria › erythropoietic protoporphyria
Related subtypes (6): hereditary coproporphyria, porphyria due to ALA dehydratase deficiency, porphyria cutanea tarda, HMBS-related hepatic porphyria, PPOX-related hepatic porphyria, hepatic cutaneous porphyria
Subtypes (2): X-linked erythropoietic protoporphyria, autosomal erythropoietic protoporphyria
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
1 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Afamelanotide | Approved (phase 4) |
| Dersimelagon | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Bitopertin, Cimetidine, Colestipol Hydrochloride.
Clinical trials & evidence
Clinical trials
Clinical trials: 26.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 11 |
| PHASE3 | 7 |
| PHASE2 | 5 |
| PHASE2/PHASE3 | 2 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05883748 | PHASE2/PHASE3 | ENROLLING_BY_INVITATION | HELIOS: Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP or XLP |
| NCT06144840 | PHASE3 | ACTIVE_NOT_RECRUITING | INcreased Sun Exposure Without Pain In Research Participants With EPP or XLP |
| NCT06910358 | PHASE3 | ACTIVE_NOT_RECRUITING | Study of Bitopertin in Participants With EPP or XLP (APOLLO) |
| NCT00004940 | PHASE3 | COMPLETED | Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria |
| NCT00979745 | PHASE3 | COMPLETED | Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP) |
| NCT01422915 | PHASE2/PHASE3 | COMPLETED | Sorbent Therapy of the Cutaneous Porphyrias |
| NCT01605136 | PHASE3 | COMPLETED | Phase III Confirmatory Study in Erythropoietic Protoporphyria |
| NCT04053270 | PHASE3 | COMPLETED | Multicentre Phase III Erythropoietic Protoporphyria Study |
| NCT04578496 | PHASE3 | COMPLETED | A Safety Extension Study in Patients With Erythropoietic Protoporphyria (EPP) |
| NCT06971900 | PHASE2 | ENROLLING_BY_INVITATION | GATEWAY: A Phase 2a Study of PORT-77 in Adults With Erythropoietic Protoporphyria |
| NCT01097044 | PHASE2 | COMPLETED | Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) |
| NCT03520036 | PHASE2 | COMPLETED | Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Subjects With Erythropoietic Protoporphyria |
| NCT05020184 | PHASE2 | COMPLETED | Effect of Oral Cimetidine in the Protoporphyrias |
| NCT05308472 | PHASE2 | COMPLETED | Study of Bitopertin to Evaluate the Safety, Tolerability, Efficacy, and PPIX Concentrations in Participants With EPP |
| NCT06388642 | PHASE1/PHASE2 | COMPLETED | Pharmacokinetics of Afamelanotide in Erythropoietic Protoporphyria Patients |
| NCT07567131 | Not specified | RECRUITING | Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP) |
| NCT00004831 | Not specified | COMPLETED | Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria |
| NCT00206869 | Not specified | UNKNOWN | Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria |
| NCT01550705 | Not specified | TERMINATED | Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria |
| NCT01688895 | Not specified | COMPLETED | Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact |
| NCT01880983 | Not specified | COMPLETED | Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) |
| NCT02979249 | Not specified | COMPLETED | Oral Iron for Erythropoietic Protoporphyrias |
| NCT03682731 | Not specified | COMPLETED | Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria |
| NCT05572125 | Not specified | COMPLETED | Iron Therapy in Erythropoietic Protoporphyria |
| NCT05780840 | Not specified | UNKNOWN | Protection Against Visible Light by Dihydroxyacetone in Erythropoietic Protoporphyria |
| NCT07603401 | Not specified | TEMPORARILY_NOT_AVAILABLE | Expanded Access Program of Bitopertin For Participants With EPP or XLP |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| AFAMELANOTIDE | 4 | 5 |
| CYSTEINE HYDROCHLORIDE | 4 | 2 |
| CIMETIDINE | 4 | 1 |
| COLESTIPOL HYDROCHLORIDE | 4 | 1 |
| ISONIAZID | 4 | 1 |
| BITOPERTIN | 3 | 4 |
| DERSIMELAGON | 3 | 1 |
| COLESTIPOL | 0 | 1 |
| DIHYDROXYACETONE | -1 | 1 |
Related Atlas pages
- Drugs: Afamelanotide, Cysteine, Cimetidine, Colestipol, Isoniazid, Bitopertin, Dersimelagon