Porphyria — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Dietary 5-aminolevulinic acid induces strain-specific effects on shell color and innate immunity in Pacific oyster (Crassostrea gigas) through divergent porphyrin metabolism.
Hu Biyang et al. — Fish & shellfish immunology (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41690531/
- 2.
Overexpression of human heme oxygenase-1 confers hypersensitivity to oxyfluorfen-induced photodynamic stress in transgenic rice (Oryza sativa L.).
Lee Dong-Gi et al. — Plant science : an international journal of experimental plant biology (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41692326/
- 3.
Tolvaptan: a potential rescue therapy for SIADH with refractory hyponatremia associated with acute intermittent porphyria.
Gupta Rahul et al. — Journal of pediatric endocrinology & metabolism : JPEM (26 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41566564/
- 4.
Clinical Practice Guidelines for the Management of Porphyrias in Japan: Secondary Publication (English Translation).
Shimizu Tadamichi et al. — The Journal of dermatology (22 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41866804/
- 5.
Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.
Musayeva Gulustan et al. — Orphanet journal of rare diseases (19 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41857576/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
Recruiting — Phase 3 — Tanabe Pharma America, Inc.
https://clinicaltrials.gov/study/NCT05005975
- 2.
Study of Bitopertin in Participants With EPP or XLP (APOLLO)
Recruiting — Phase 3 — Disc Medicine, Inc
https://clinicaltrials.gov/study/NCT06910358
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.
Most Recent Research
Shell color is a key market trait in marine molluscs, while stress resilience is crucial for intensive aquaculture. This study investigated the 90-day effects of dietary 5-aminolevulinic acid (5-ALA; at 0, 10, 20, and 40 mg/L) on shell pigmentation and innate immunity in two shell-color strains of the Pacific oyster, Crassostrea gigas. The results revealed divergent Protoporphyrin IX (PPIX) utilization strategies. The orange-shell strain prioritized PPIX for shell deposition, thereby enhancing coloration. In contrast, the gold-shell strain redirected PPIX toward heme synthesis, which subsequently activated a systemic defense response. In gold-shell C. gigas, this response included the significant upregulation of immune-related genes such as nuclear factor erythroid 2-related factor 2 (Nrf2), toll-like receptor 4 (TLR4), myeloid differentiation primary response 88 (MyD88), and interleukin-17 (IL-17). It was also accompanied by increased activities of the antioxidant enzymes superoxide dismutase (SOD) and catalase (CAT), elevated glutathione (GSH) levels, and reduced lipid peroxidation (malondialdehyde, MDA). Moreover, 5-ALA induced hypomethylation of CgPPOX and modulated the expression of PPIX transporters (CgTspO, CgABCG2), establishing a novel link between porphyrin metabolism and immunity. An optimal dose of 20 mg/L 5-ALA was identified, which simultaneously improved desirable shell-color traits and physiological resilience. This study provides new insights into the molecular basis of color trait improvement and a theoretical foundation for understanding the mechanisms linking pigment metabolism and immune function in aquatic animals.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.