Porphyria
MONDO:0037939Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.
Also known as: porphyria
25 clinical trials for this condition and its sub-types, 8 tagged with Porphyria itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Porphyria
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Inherited porphyria 0 trials · 24 incl. sub-types
9 sub-types
- Erythropoietic protoporphyria 15 trials Sub-types →
- CPOX-related hereditary coproporphyria 0 trials · 5 incl. sub-types Sub-types →
- HMBS-related hepatic porphyria 0 trials · 5 incl. sub-types Sub-types →
- PPOX-related hepatic porphyria 0 trials · 2 incl. sub-types Sub-types →
- Cutaneous porphyria 2 trials
- UROD-related inherited porphyria 0 trials · 1 incl. sub-types Sub-types →
- Chester porphyria 0 trials
- Erythropoietic uroporphyria associated with myeloid malignancy 0 trials
- Porphyria due to ALA dehydratase deficiency 0 trials
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Hepatic porphyria 4 trials · 23 incl. sub-types
7 sub-types
- Erythropoietic protoporphyria 15 trials Sub-types →
- HMBS-related hepatic porphyria 0 trials · 5 incl. sub-types Sub-types →
- Hereditary coproporphyria 5 trials
- PPOX-related hepatic porphyria 0 trials · 2 incl. sub-types Sub-types →
- Porphyria cutanea tarda 0 trials · 1 incl. sub-types Sub-types →
- Hepatic cutaneous porphyria 0 trials
- Porphyria due to ALA dehydratase deficiency 0 trials
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Acquired porphyria 0 trials
1 sub-type
- Sporadic porphyria cutanea tarda 0 trials
Most studied deeper sub-types
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New drug bitopertin offers hope for sunlight pain relief in rare blood disorders
Disease control By invitation onlyThis long-term study tests the safety and effectiveness of bitopertin (DISC-1459) in people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain from sunlight exposure. About 230 participants who previously took bitoper…
Phase 2/3 • Sponsor: Disc Medicine, Inc • Aim: Disease control
Last updated Sep 12, 2026 00:00 UTC
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New pill could let Sun-Sensitive patients enjoy the outdoors
Disease control OngoingThis Phase 3 trial tests whether bitopertin, a daily pill, can help people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) spend more time in sunlight without pain. About 183 participants aged 12 and older will take bitopertin or a placebo for 6 months. …
Phase 3 • Sponsor: Disc Medicine, Inc • Aim: Disease control
Last updated Sep 04, 2026 00:00 UTC
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Porphyria biomarker hunt could transform patient monitoring
Knowledge-focused OngoingThis study aims to find new biological markers (biomarkers) that can show how active acute porphyria is in the body and how well treatments are working. Researchers will study 50 people with confirmed acute porphyria to measure gene activity related to heme production and stress …
Sponsor: The University of Texas Medical Branch, Galveston • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:32 UTC