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ORPHA:210115

Sterile multifocal osteomyelitis with periostitis and pustulosis

medium confidenceDisorder

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

Publications

249

74.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,194

Distinct authors in sample

Gene link

IL1RN

Strong

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — IL1RN

  2. LiteraturePresent

    249 matched papers (158 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

249

249 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

249 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

158 in the last 10 years · medium confidence · 74.7th percentile (publications denominator)

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 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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"

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" OR "IL1RN"

Recall-expansion terms: IL1RN

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, recall-expansion; 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

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