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ORPHA:447

Paroxysmal nocturnal hemoglobinuria

medium confidenceDisorder

Also known as: Marchiafava-Micheli disease · PNH

Publications

8,353

94th percentile

Trials

135

Interventional, condition-specific

Researchers

1,119

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

acquired paroxysmal nocturnal hemoglobinuria · hereditary paroxysmal nocturnal hemoglobinuria · inherited paroxysmal nocturnal hemoglobinuria · paroxysmal hemoglobinuria

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    8,353 matched papers (4,372 in last 10 years) Source

  3. Phenotype characterisedPresent

    53 HPO annotations (e.g. Paroxysmal nocturnal hemoglobinuria; Arthralgia; Hemolytic anemia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    7 FDA designations (4 FDA orphan-indication approvals) — e.g. pozelimab Source

  6. Interventional trialPresent

    135 matched on ClinicalTrials.gov (28 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

53

Associated phenotypes · MONDO:0100244

  • Paroxysmal nocturnal hemoglobinuria
  • Arthralgia
  • Hemolytic anemia
  • Dyspnea
  • Abdominal pain

Showing 5 of 53 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

7

Designations · 4 with FDA orphan-indication approval

  • FDA pozelimabParoxysmal nocturnal hemoglobinuria · 2019-07-22 · Not FDA Approved for Orphan Indication
  • FDA (2S,4R)-1-(2-(3-acetyl-5-(2-methylpyrimidin-5-yl)-1H-indazol-1-yl)acetyl)-N-(6-bromopyridin-2-yl)-4-fluoropyrrolidine-2-carboxamideParoxysmal nocturnal hemoglobinuria · 2017-11-02 · Not FDA Approved for Orphan Indication
  • FDA CoversinParoxysmal nocturnal hemoglobinuria · 2016-09-08 · Not FDA Approved for Orphan Indication
  • FDA S3,S13-cyclo(D-tyrolsyl-L-isoleucyl-L-cysteinyl-L-valyl-1-methyl-L-tryptophyl-L-glutaminyl-L-aspartyl-L-tryptophyl-N-methyl-L-glycyl-L-alanyl-L-histidyl-L-arginyl-L-cysteinyl-N-methyl-L-isoleucinamide)Paroxysmal nocturnal hemoglobinuria paroxysmal nocturnal hemoglobinuria · 2014-10-09 · Not FDA Approved for Orphan Indication
  • FDA Ravulizumab-cwvz (ULTOMIRIS)Paroxysmal nocturnal hemoglobinuria · 2017-01-04
  • FDA RAVULIZUMAB (Ultomiris)Paroxysmal nocturnal hemoglobinuria · 2017-01-04
  • FDA eculizumab (Soliris)Paroxysmal nocturnal hemoglobinuria · 2003-08-20

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

32

Drugs / clinical candidates · MONDO_0100244

CTD chemicals (MyDisease.info)

6 associated chemicals · 8 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cyclosporine · therapeutic
  • Danazol · therapeutic
  • Fibrinolytic Agents · therapeutic
  • Oxymetholone · therapeutic
  • Prednisone · therapeutic
  • Chloramphenicol · marker/mechanism

Pathways: Glycosylphosphatidylinositol (GPI)-anchor biosynthesis; Metabolic pathways; GPI-anchor biosynthesis, core oligosaccharide; Synthesis of glycosylphosphatidylinositol (GPI); Attachment of GPI anchor to uPAR; Post-translational modification: synthesis of GPI-anchored proteins; Metabolism of proteins; Post-translational protein modification

MyDisease.info · MONDO:0100244

Literature

Is anyone studying this?

8,353

8,353 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,353 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

4,372 in the last 10 years · medium confidence · 94th percentile (publications denominator)

Phrase hits: 8,353 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,119

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Fattizzo B8 papers · 2026

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico-SC Ematologia, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Nishimura JI7 papers · 2026

    Department of Hematology and Oncology, Osaka University Graduate School of Medicine, Suita, Japan. junnishi@bldon.med.osaka-u.ac.jp.

    Papers in Europe PMC
  3. 03
    Patriquin CJ7 papers · 2026

    Division of Medical Oncology & Hematology, University Health Network, University of Toronto, Toronto, Canada.

    Papers in Europe PMC
  4. 04
    Chen Y6 papers · 2026

    Department of Hematology, Tianjin Medical University General Hospital, Tianjin, People's Republic of China.

    Papers in Europe PMC
  5. 05
    Kelly RJ6 papers · 2026

    Department of Haematology, St. James's University Hospital, Leeds, UK.

    Papers in Europe PMC
  6. 06
    Panse J6 papers · 2026

    Department of Medicine (Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation), Faculty of Medicine, RWTH Aachen University, Aachen, Germany.

    Papers in Europe PMC
  7. 07
    de Fontbrune FS5 papers · 2026

    APHP, Service D'hématologie Greffe, Hôpital Saint-Louis, Paris, France.

    Papers in Europe PMC
  8. 08
    de Latour RP5 papers · 2026

    APHP, Service D'hématologie Greffe, Hôpital Saint-Louis, Paris, France.

    Papers in Europe PMC
  9. 09
    Gandhi S5 papers · 2026

    King's College Hospital NHS Foundation Trust, London, UK.

    Papers in Europe PMC
  10. 10
    Iori AP5 papers · 2026

    A.O.U. Policlinico Umberto I-Ematologia, Rome, Italy. iori@bce.uniroma1.it.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

135

interventional trials for this specific condition

135 interventional trials matched this specific condition name; 28 currently recruiting in our sample. 6 trials are registered for hemoglobinuria, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

135 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.9th percentile).

medium confidence · 98.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

135 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: hemoglobinuria

6

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Observational and natural-history studies

31 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 20 · after dedupe 20 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 20 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (20)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Paroxysmal nocturnal hemoglobinuria — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Paroxysmal nocturnal hemoglobinuria" OR "Marchiafava-Micheli disease" OR "acquired paroxysmal nocturnal hemoglobinuria" OR "hereditary paroxysmal nocturnal hemoglobinuria" OR "inherited paroxysmal nocturnal hemoglobinuria" OR "paroxysmal hemoglobinuria"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Paroxysmal nocturnal hemoglobinuria" OR "Marchiafava-Micheli disease" OR "acquired paroxysmal nocturnal hemoglobinuria" OR "hereditary paroxysmal nocturnal hemoglobinuria" OR "inherited paroxysmal nocturnal hemoglobinuria" OR "paroxysmal hemoglobinuria"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 135 interventional · 31 observational · 4 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hemoglobinuria"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PNH

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:52:06.378Z