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inherited porphyria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inherited porphyria

MONDO:0019142

Also known as:disorder of porphyrin and heme metabolismdisorder of porphyrin metabolismporphyria

Find Clinical TrialsTrials

Overview

Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.

Clinical Trials13 registered · 6 recruiting

Diagnosis

Biomarker and diagnostic research for inherited porphyria has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

13 clinical trials registered, 6 recruiting. Interventions under study include other interventions and drug therapy. Pipeline includes 2 PHASE3, 2 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT07024316](https://clinicaltrials.gov/study/NCT07024316)

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:738

GARD

Genetic and Rare Diseases Info Center

GARD:10353

Questions for Your Care Team

→Are any of the 13 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Laboratory research	81	46%
Research summaries	56	32%
Testing and diagnosis research	10	6%
Disease patterns and progression	10	6%
Other research	7	4%
Patient case studies	6	3%
Clinical study results	4	2%
New treatment approaches	3	2%

inherited porphyria

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications