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Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.
Features include: Paroxysmal nocturnal hemoglobinuria.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 1 | Paroxysmal nocturnal hemoglobinuria |
PIGA function has not been fully characterized.
Paroxysmal nocturnal hemoglobinuria 1 is associated with mutations in the PIGA gene on chromosome X.
Genetic testing for PIGA is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for paroxysmal nocturnal hemoglobinuria 1 has been reported in the published literature.
No clinical trials have been registered for paroxysmal nocturnal hemoglobinuria 1.
160 publications have been identified in PubMed for paroxysmal nocturnal hemoglobinuria 1. Research spans Clinical Trial Publication (32%), Review / Meta-Analysis (21%), and Case Report / Case Series (18%).
Research Type | Count | % of Total |
|---|---|---|
Clinical study results | 48 | 32% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC
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Online Mendelian Inheritance in Man
Research summaries
31 |
21% |
Patient case studies | 26 | 18% |
Disease patterns and progression | 19 | 13% |
Laboratory research | 10 | 7% |
Testing and diagnosis research | 7 | 5% |
New treatment approaches | 5 | 3% |
Other research | 2 | 1% |
Abro B (2026). [PMID: 41493425](https://pubmed.ncbi.nlm.nih.gov/41493425/). *Int J Lab Hematol*. [Review / Meta-Analysis]
Tokuda K (2026). [PMID: 41391372](https://pubmed.ncbi.nlm.nih.gov/41391372/). *Hematol Transfus Cell Ther*. [Case Report / Case Series]
Zhao P (2026). [PMID: 41599741](https://pubmed.ncbi.nlm.nih.gov/41599741/). *Pharmaceuticals (Basel, Switzerland)*. [Gene Therapy / Novel Therapeutics]
Zhang T (2026). [PMID: 42215427](https://pubmed.ncbi.nlm.nih.gov/42215427/). *Expert Rev Clin Pharmacol*. [Review / Meta-Analysis]
Hakkarainen M (2026). [PMID: 41628318](https://pubmed.ncbi.nlm.nih.gov/41628318/). *Blood Adv*. [Case Report / Case Series]
Wagner-Ballon O (2026). [PMID: 40000023](https://pubmed.ncbi.nlm.nih.gov/40000023/). *Int J Lab Hematol*. [Review / Meta-Analysis]
Höchsmann B (2026). [PMID: 41610317](https://pubmed.ncbi.nlm.nih.gov/41610317/). *Blood advances*. [Gene Therapy / Novel Therapeutics]
Panse J (2026). [PMID: 41480918](https://pubmed.ncbi.nlm.nih.gov/41480918/). *Hematology*. [Epidemiology / Natural History]
Gutierrez-Rodrigues F (2026). [PMID: 42047559](https://pubmed.ncbi.nlm.nih.gov/42047559/). *NEJM Evid*. [Clinical Trial Publication]
Sangwan P (2026). [PMID: 40924694](https://pubmed.ncbi.nlm.nih.gov/40924694/). *Indian Dermatol Online J*. [Case Report / Case Series]
AI-curated news mentioning paroxysmal nocturnal hemoglobinuria 1
Updated Aug 31, 2026
A new expert consensus outlines an algorithmic approach for diagnosing and monitoring paroxysmal nocturnal hemoglobinuria (PNH), reflecting advancements in treatment options. This guidance aims to enhance clinical decision-making in managing PNH.
A recent observational study highlights the impact of anemia on patient-reported outcomes in individuals with paroxysmal nocturnal hemoglobinuria. The findings underscore the need for improved management strategies to address anemia in this patient population.
Advocacy for global access to complement inhibitor therapy for paroxysmal nocturnal hemoglobinuria is emphasized. The call highlights the need for equitable treatment options for patients worldwide.