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ORPHA:1159

Progressive pseudorheumatoid dysplasia

medium confidenceDisorder

Also known as: PPD · Progressive pseudorheumatoid arthropathy of childhood · Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome

Publications

767

81.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,143

Distinct authors in sample

Gene link

CCN6

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — CCN6

  2. LiteraturePresent

    767 matched papers (413 in last 10 years) Source

  3. Phenotype characterisedPresent

    68 HPO annotations (e.g. Muscle weakness; Limitation of joint mobility; Abnormal hip joint morphology) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

68

Associated phenotypes · MONDO:0008827

  • Muscle weakness
  • Limitation of joint mobility
  • Abnormal hip joint morphology
  • Scoliosis
  • Short stature

Showing 5 of 68 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

767

767 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=3967) is 59.

767 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).

413 in the last 10 years · medium confidence · 81.2th percentile (publications denominator)

Phrase hits: 246 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Warman ML9 papers · 2023

    Department of Orthopedic Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  2. 02
    Zhang Z8 papers · 2025

    Department of General Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, P.R. China.

    Papers in Europe PMC
  3. 03
    Girisha KM7 papers · 2025

    Department of Medical Genetics,Kasturba Medical College, Manipal University,Manipal,India.

    Papers in Europe PMC
  4. 04
    Shah H6 papers · 2025

    Ansa Clinic, S. G. Highway, Ahmedabad, India.

    Papers in Europe PMC
  5. 05
    Jana M5 papers · 2026

    Department of Radiodiagnosis and Interventional Radiology, All India Institute of Medical Sciences, New Delhi, India.

    Papers in Europe PMC
  6. 06
    Li S5 papers · 2026

    Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.

    Papers in Europe PMC
  7. 07
    Nampoothiri S5 papers · 2025

    Department of Paediatrics, Amrita School of Medicine, Kochi, India.

    Papers in Europe PMC
  8. 08
    Superti-Furga A5 papers · 2023

    Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  9. 09
    Wang 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
  10. 10
    Wang 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Progressive pseudorheumatoid dysplasia — 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.

("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 "CCN6 syndrome" OR "CCN6-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 1 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: 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