ORPHA:1159
Progressive pseudorheumatoid dysplasia
Also known as: PPD · Progressive pseudorheumatoid arthropathy of childhood · Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
246
72.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,143
Distinct authors in sample
Gene link
CCN6
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare spondyloepiphyseal (SED) characterized by an association with arthropathy.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008827
- MeSH:C535387
- OMIM:208230
- UMLS:C0432215
Additional Mondo synonyms (2)
progressive pseudorheumatoid arthropathy of childhood · spondyloepiphyseal dysplasia tarda-progressive arthropathy 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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — CCN6
- LiteraturePresent
246 matched papers (138 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (CCN6).
GenCC classification: Definitive.
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?
246
246 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.
246 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).
138 in the last 10 years · medium confidence · 72.3th percentile (publications denominator)
Phrase hits: 246 · MeSH hits: 0
Who's working on it?
1,143
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Warman ML9 papers · 2023
Department of Orthopedic Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 02Zhang Z8 papers · 2025
Department of General Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, P.R. China.
Papers in Europe PMC - 03Girisha KM7 papers · 2025
Department of Medical Genetics,Kasturba Medical College, Manipal University,Manipal,India.
Papers in Europe PMC - 04
- 05Jana M5 papers · 2026
Department of Radiodiagnosis and Interventional Radiology, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 06Li S5 papers · 2026
Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
Papers in Europe PMC - 07Nampoothiri S5 papers · 2025
Department of Paediatrics, Amrita School of Medicine, Kochi, India.
Papers in Europe PMC - 08Superti-Furga A5 papers · 2023
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 09Wang J5 papers · 2026
Department of Biopharmaceutics, Zhejiang Provincial Engineering Research Center of New Technologies and Applications for Targeted Therapy of Major Diseases, College of Life Science and Medicine, Zhejiang Sci-Tech University, Hangzhou, China.
Papers in Europe PMC - 10Wang Y5 papers · 2026
International Joint Research Laboratory for Cell and Gene Therapy of Henan Province, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she East Road, Zhengzhou 450000, Henan, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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
- NCT07173010·NOT YET RECRUITING·Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
Conditions: Mucopolysaccharidoses · Progressive Pseudorheumatoid Dysplasia · Farber Disease · Osteogenesis Imperfecta·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.
"Progressive pseudorheumatoid dysplasia" OR "Progressive pseudorheumatoid arthropathy of childhood" OR "Progressive pseudorheumatoid arthropathy of the childhood" OR "Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Progressive pseudorheumatoid dysplasia" OR "Progressive pseudorheumatoid arthropathy of childhood" OR "Progressive pseudorheumatoid arthropathy of the childhood" OR "Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" OR "CCN6" OR "spondyloepiphyseal dysplasia"
Recall-expansion terms: CCN6, spondyloepiphyseal dysplasia
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PPD
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 2026-07-26T16:32:16.158Z