Drug discovery
2
drugs
With orphan designations
Overview
Autosomal erythropoietic protoporphyria (EPP) is a rare genetic disorder caused by ferrochelatase (FECH) deficiency, leading to protoporphyrin accumulation in blood and tissues. It manifests as acute, painful photosensitivity typically beginning in early childhood after sunlight exposure (400–410 nm wavelengths) [1][3][5]. Chronic complications include hepatobiliary disease (e.g., protoporphyric liver failure) and gallstones [1][4][8]. Diagnosis involves elevated erythrocyte protoporphyrin levels, plasma fluorescence testing, and FECH genetic analysis [1][4][5]. Therapeutic goals focus on photoprotection and preventing liver damage [1][3][4].
Therapies
Photoprotection: Opaque sunscreens, protective clothing, and window filters to block Soret band light [1][3][8]
Pharmacologic: Afamelanotide (melanocortin analog) improves light tolerance; dersimelagon and bitopertin under clinical evaluation [1][4][6]
Liver management: Annual hepatic monitoring, cholestyramine for protoporphyrin excretion, and liver/bone marrow transplantation for advanced disease [1][3][8]
Categories: rare genetic diseases, rare hematological diseases, rare inborn errors of metabolism, rare renal diseases, rare skin diseases
Drug Discovery Landscape
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
2-((3S,6S,12aS)-9-chloro-6-isobutyl-1,4-dioxo-1,2,3,4,6,7,12,12a-octahydropyrazino[1',2':1,6]pyrido[3,4-b]indol-3-yl)-N,N-dimethylacetamide | small molecules | FDA | 2025-09-08 | — | Portal Therapeutics, Inc. |
L-cysteine | small molecules | FDA | 1994-05-16 | — | Brigham and Women's Hospital |