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ORPHA:210115

Sterile multifocal osteomyelitis with periostitis and pustulosis

low confidenceDisorder

Also known as: Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · DIRA · Interleukin-1 receptor antagonist deficiency · OMPP

Publications

146,804

Trials

1

Interventional, condition-specific

Researchers

1,194

Distinct authors in sample

Gene link

IL1RN

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · deficiency of the Interleukin-1 receptor antagonist

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — IL1RN

  2. LiteraturePresent

    146,804 matched papers (77,639 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Pustule; Hepatomegaly; Motor delay) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

    1 FDA designation (none yet with FDA orphan-indication approval) — e.g. rilonacept Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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?

Yes — we know a specific gene responsible (IL1RN).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0013021

  • Pustule
  • Hepatomegaly
  • Motor delay
  • Increased total neutrophil count

Showing 4 of 30 — 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)

1

Designation · no FDA orphan-indication approval yet

  • FDA rilonacept (Arcalyst)Deficiency of interleukin-1 receptor antagonist · 2017-05-09

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0013021

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

146,804

146,804 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.

146,804 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).

77,639 in the last 10 years · low confidence

Phrase hits: 249 · MeSH hits: 5

Open Europe PMC search

Who's working on it?

1,194

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
    Goldbach-Mansky R13 papers · 2022

    Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Building 10, Room 6D-47B, 10 Center Drive, Bethesda, MD 20892, USA. Electronic address: goldbacr@mail.nih.gov.

    Papers in Europe PMC
  2. 02
    Rigante D12 papers · 2025

    Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

    Papers in Europe PMC
  3. 03
    Cantarini L8 papers · 2022

    Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena Siena, Italy.

    Papers in Europe PMC
  4. 04
    Gattorno M8 papers · 2024

    IRCCS Istituto Giannina Gaslini, Genoa, Italy.

    Papers in Europe PMC
  5. 05
    Ferguson PJ7 papers · 2021

    Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA.

    Papers in Europe PMC
  6. 06
    Aksentijevich I5 papers · 2025

    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  7. 07
    Frenkel J5 papers · 2022

    Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.

    Papers in Europe PMC
  8. 08
    Insalaco A5 papers · 2025

    Rheumatology Unit, Bambino Gesù Children's Hospital, Rome, Italy.

    Papers in Europe PMC
  9. 09
    de Jesus AA4 papers · 2022

    National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland.

    Papers in Europe PMC
  10. 10
    Dedeoglu F4 papers · 2022

    Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 70 trials are registered for osteomyelitis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: osteomyelitis

70

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.

Recruiting under the broader category

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

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 (1)

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 Sterile multifocal osteomyelitis with periostitis and pustulosis — 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.

("Sterile multifocal osteomyelitis with periostitis and pustulosis" OR "Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency" OR "Interleukin-1 receptor antagonist deficiency" OR "deficiency of the Interleukin-1 receptor antagonist" OR "deficiency of Interleukin-1 receptor antagonist") OR (MESH:"Deficiency of interleukin-1 receptor antagonist") OR ("IL1RN" OR "IL1RN syndrome" OR "IL1RN-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Deficiency of interleukin-1 receptor antagonist

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

"Sterile multifocal osteomyelitis with periostitis and pustulosis" OR "Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency" OR "Interleukin-1 receptor antagonist deficiency" OR "deficiency of the Interleukin-1 receptor antagonist" OR "deficiency of Interleukin-1 receptor antagonist"

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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"osteomyelitis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DIRA; OMPP

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (146804) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T09:28:48.447Z