Inherited porphyria
MONDO:0019142Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.
Also known as: disorder of porphyrin and heme metabolism, disorder of porphyrin metabolism, porphyria, hereditary porphyria, Hematoporphyria, Porphyrinopathy
24 clinical trials for this condition and its sub-types, 0 tagged with Inherited porphyria itself.
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Sub-types of Inherited porphyria
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Erythropoietic protoporphyria 15 trials
2 sub-types
- X-linked erythropoietic protoporphyria 10 trials
- Autosomal erythropoietic protoporphyria 0 trials · 3 incl. sub-types Sub-types →
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CPOX-related hereditary coproporphyria 0 trials · 5 incl. sub-types
2 sub-types
- Hereditary coproporphyria 5 trials
- Harderoporphyria 0 trials
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HMBS-related hepatic porphyria 0 trials · 5 incl. sub-types
4 sub-types
- Acute intermittent porphyria 5 trials
- Encephalopathy, porphyria-related 0 trials
- Leukoencephalopathy, porphyria-related 0 trials
- Porphyria, acute intermittent, nonerythroid variant 0 trials
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Cutaneous porphyria 2 trials
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PPOX-related hepatic porphyria 0 trials · 2 incl. sub-types
1 sub-type
- Variegate porphyria 2 trials Sub-types →
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UROD-related inherited porphyria 0 trials · 1 incl. sub-types
2 sub-types
- Familial porphyria cutanea tarda 1 trial
- Hepatoerythropoietic porphyria 0 trials
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Chester porphyria 0 trials
Most studied deeper sub-types
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A pill that could let people with rare sunlight disorder step outside without pain
Disease control Recruiting nowResearchers are testing an oral drug called PORT-77 in people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), rare conditions that cause severe pain after sunlight exposure. The trial enrolls about 225 adults and adolescents aged 12 and older. It compa…
Phase 2/3 • Sponsor: Portal Therapeutics, Inc. • Aim: Disease control
Last updated Sep 17, 2026 00:00 UTC
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New hope for rare sun allergy: bitopertin offered to patients with no options
Disease control Expanded accessThis expanded access program provides bitopertin (DISC-1459) to patients aged 12 and older with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) who have no satisfactory treatment options in the US. The goal is to offer access and gather safety information. Pa…
Sponsor: Disc Medicine, Inc • Aim: Disease control
Last updated Aug 05, 2026 00:00 UTC
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Could a Carb-Heavy diet tame a rare blood disorder?
Disease control Recruiting nowThis study is testing whether eating a diet rich in carbohydrates (60-65% of daily calories) can help people with acute intermittent porphyria (AIP), a rare genetic disorder that causes severe attacks of pain and other symptoms. Fifty adults with AIP will try two different diet p…
Sponsor: Nordlandssykehuset HF • Aim: Disease control
Last updated Jun 27, 2026 12:01 UTC
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Experimental pill aims to ease sun sensitivity in rare blood disorder
Disease control Recruiting nowThis early-phase trial tests an oral drug called ATL-001 (ciclopirox) in 6 adults with congenital erythropoietic porphyria (CEP), a rare condition that causes severe skin damage from sunlight. The study measures whether the drug reduces skin lesions, fatigue, and other symptoms o…
Phase 1/2 • Sponsor: Atlas Molecular Pharma • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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Hunting the hidden genes that decide who gets porphyria attacks
Knowledge-focused Recruiting nowAcute intermittent porphyria (AIP) is an inherited disorder that can cause sudden, severe attacks, but not everyone who carries the gene gets sick. Researchers at Mount Sinai are collecting blood, saliva, and urine samples from about 150 people in AIP families, including affected…
Sponsor: Icahn School of Medicine at Mount Sinai • Aim: Knowledge-focused
Last updated Sep 12, 2026 00:00 UTC
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New patient registry aims to unlock secrets of rare liver disease
Knowledge-focused Recruiting nowThis study is a global registry that will follow about 150 people with acute hepatic porphyria (AHP) over time. Researchers will collect information on how the disease progresses, how it is managed in real-world settings, and the safety and effectiveness of approved treatments li…
Sponsor: Alnylam Pharmaceuticals • Aim: Knowledge-focused
Last updated Sep 10, 2026 00:00 UTC
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Scientists launch Largest-Ever porphyria watch: 1,500 patients tracked for clues
Knowledge-focused Recruiting nowThis study follows 1,500 people with porphyria over many years to learn how the disease progresses, what symptoms appear, and how it affects pregnancy and lifespan. Researchers will collect medical records and lab results to create a clearer picture of the condition. No new treat…
Sponsor: The American Porphyrias Expert Collaborative • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC
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New study aims to unlock mysteries of rare sun allergy disorders
Knowledge-focused Recruiting nowThis observational study is gathering information on how erythropoietic protoporphyria (EPP) and X-linked porphyria (XLP) affect people aged 12 and older. Over 6 months, researchers will track symptoms, light exposure, and blood levels of protoporphyrin IX (PPIX) in 50 participan…
Sponsor: Portal Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC