RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
Updates are delayed or unverified. Check original sources for the latest information.
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Porphyria: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Acute intermittent porphyria: abdominal pain, weight loss and acute neuropathy.
Chandrisiri Dilini et al., Practical neurology (16 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42888036/
- 2.
The psychosocial impact of erythropoietic protoporphyria in childhood: a guide for parents.
Gjestson Kaleb et al., Molecular genetics and metabolism (16 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42892280/
- 3.
A clinical case of acute intermittent porphyria
M. V. Semenova et al., Yakut Medical Journal (15 October 2026)
https://doi.org/10.25789/ymj.2026.95.33
- 4.
The burden of an ultra-rare inherited skin disorder: Congenital erythropoietic porphyria.
Naik Hetanshi et al., Molecular genetics and metabolism (7 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42858673/
- 5.
Genetic testing to distinguish X-linked protoporphyria from erythropoietic protoporphyria informed iron replacement therapy leading to reversal of severe protoporphyric hepatopathy
Christopher D. Ma et al., Molecular Genetics and Metabolism Reports (3 October 2026)
https://doi.org/10.1016/j.ymgmr.2026.101368
Clinical Trials : Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
Study of Bitopertin in Participants With EPP or XLP (APOLLO)
NCT06910358 · Completed · Phase 3 · Disc Medicine, Inc
Ages 12 and over
https://clinicaltrials.gov/study/NCT06910358
- 2.
INcreased Sun Exposure Without Pain In Research Participants With EPP or XLP
NCT06144840 · Completed · Phase 3 · Tanabe Pharma America, Inc.
Ages 12 to 75
https://clinicaltrials.gov/study/NCT06144840
- 3.
HELIOS: Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP or XLP
NCT05883748 · Enrolling by invitation · Phase 2 / Phase 3 · Disc Medicine, Inc
Ages 12 and over
https://clinicaltrials.gov/study/NCT05883748
- 4.
Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
NCT05005975 · Active (not recruiting) · Phase 3 · Tanabe Pharma America, Inc.
Ages 12 to 75
https://clinicaltrials.gov/study/NCT05005975
- 5.
ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP)
NCT03338816 · Completed · Phase 3 · Alnylam Pharmaceuticals
Ages 12 and over
https://clinicaltrials.gov/study/NCT03338816
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Porphyria
Porphyria refers to a group of rare disorders caused by enzyme deficiencies in the heme biosynthesis pathway, affecting the nervous system or skin. Acute porphyrias cause potentially life-threatening attacks of abdominal pain and neurological symptoms. A new RNAi therapy (givosiran) has transformed prevention of attacks.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Common Questions
What is Porphyria?
Porphyria refers to a group of rare disorders caused by enzyme deficiencies in the heme biosynthesis pathway, affecting the nervous system or skin. Acute porphyrias cause potentially life-threatening attacks of abdominal pain and neurological symptoms. A new RNAi therapy (givosiran) has transformed prevention of attacks.
How many clinical trials are available for Porphyria?
RareWays currently indexes 45 clinical trials for Porphyria, of which 3 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Porphyria come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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