ORPHA:793
SAPHO syndrome
Also known as: Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
Publications
1,710
Trials
3
Interventional, condition-specific
Researchers
922
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019266
- MeSH:D020083
- UMLS:C0263859
- NCIT:C119049
Additional Mondo synonyms (4)
PPHS · Pustulo-psoriatic hyperostotic Spondyloarthritis · synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome · synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,710 matched papers (1,052 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
3 matched on ClinicalTrials.gov (1 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)
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?
1,710
1,710 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,710 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).
1,052 in the last 10 years · low confidence
Phrase hits: 1,710 · MeSH hits: 0
Who's working on it?
922
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.
- 01Li C33 papers · 2026
Department of Dermatology, Tianjin Institute of Integrative Dermatology, Tianjin Academy of Traditional Chinese Medicine Affiliated Hospital, Tianjin, China.
Papers in Europe PMC - 02Cao Y10 papers · 2025
Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Papers in Europe PMC - 03Liu Y10 papers · 2026
Department of Stomatology, The Second Hospital of Jilin University, Changchun, Jilin 130041, China; Jilin Provincial Changbai Mountain Anti-tumor Medicine Engineering Center, Changchun, Jilin, China. Electronic address: liuyun_2000@126.com.
Papers in Europe PMC - 04Zhang W10 papers · 2025
Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Beijing, China casio1981@163.com zhangwen91@sina.com.
Papers in Europe PMC - 05Liu S9 papers · 2025
Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Papers in Europe PMC - 06Li Y7 papers · 2026
Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Beijing, China.
Papers in Europe PMC - 07Wang Y7 papers · 2026
First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin, China.
Papers in Europe PMC - 08Hou X6 papers · 2026
Department of Rheumatology, Dongfang Hospital, Beijing University of Chinese Medicine, Beijing, China. houxiujuan2008@163.com.
Papers in Europe PMC - 09Lin Z6 papers · 2026
Capital Medical University Beijing Hospital of Traditional Chinese Medicine, Beijing, China; Beijing University of Chinese Medicine, Beijing, China.
Papers in Europe PMC - 10Zhang Y6 papers · 2026
Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
low confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06011889·RECRUITING·Study of the Efficacy and Safety of Etanercept Treatment in Patients With SAPHO Syndrome
Conditions: SAPHO Syndrome·Matched via name phrase
Observational and natural-history studies
3 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
- NCT07081880·RECRUITING·Study of the Pathophysiological Mechanisms Involved in the SAPHO Syndrome: Genetic Component and Immune Response
Conditions: SAPHO Syndrome·Matched via name phrase
- NCT07086599·RECRUITING·Typological Study of Sleep Pathologies During Psoriatic Rheumatism and SAPHO Syndrome: Prospective Study Within the Paris Saint-Joseph Hospital Group"
Conditions: Psoriasis Arthritis · SAPHO Syndrome · Sleep Apnea Syndromes·Matched via name phrase
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 2026-07-26This 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.
"SAPHO syndrome" OR "Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome" OR "Pustulo-psoriatic hyperostotic Spondyloarthritis" OR "synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"SAPHO syndrome" OR "Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome" OR "Pustulo-psoriatic hyperostotic Spondyloarthritis" OR "synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome"
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: 3 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PPHS
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:22:27.605Z