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ORPHA:582

Mucopolysaccharidosis type 4

low confidenceDisorder

Also known as: MPS4 · MPSIV · Morquio disease · Mucopolysaccharidosis type IV

Publications

2,604

Trials

2

Interventional, condition-specific

Researchers

1,134

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare lysosomal storage disease characterized by mild to severe spondylo-epiphyso-metaphyseal , manifesting with disproportionate short stature (short neck and trunk), joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities (kyphosis and scoliosis), respiratory impairment and valvular heart disease.

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 (8)

Morquio syndrome · Mucopolysaccharidosis IV · eccentro-osteochondrodysplasia · eccentrochondrodysplasia · eccentroosteochondrodysplasia · mucopolysaccharidosis IV · mucopolysaccharidosis type 4 · mucopolysaccharidosis type IV

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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,604 matched papers (980 in last 10 years) Source

  3. Phenotype characterisedPresent

    128 HPO annotations (e.g. Short neck; Pectus carinatum; Abnormal rib morphology) Source

  4. Animal modelPresent

    2 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 trialPresent

    2 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

128

Associated phenotypes · MONDO:0018938

  • Short neck
  • Pectus carinatum
  • Abnormal rib morphology
  • Abnormal metaphysis morphology
  • Gait disturbance

Showing 5 of 128 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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

1

Drugs / clinical candidates · MONDO_0018938

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,604

2,604 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.

2,604 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).

980 in the last 10 years · low confidence

Phrase hits: 2,604 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,134

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
    Tomatsu S10 papers · 2026

    Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

    Papers in Europe PMC
  2. 02
    Magner M7 papers · 2026

    Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.

    Papers in Europe PMC
  3. 03
    Lin SP6 papers · 2026

    MacKay Children's Hospital, Taipei, Taiwan.

    Papers in Europe PMC
  4. 04
    Pachajoa H5 papers · 2025

    Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad ICESI, Cali, Colombia.

    Papers in Europe PMC
  5. 05
    Bober MB4 papers · 2025

    Nemours/Alfred I. DuPont Hospital for Children, Wilmington, DE, USA.

    Papers in Europe PMC
  6. 06
    Candelo E4 papers · 2025

    Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad ICESI, Cali, Colombia.

    Papers in Europe PMC
  7. 07
    Diaz-Ordoñez L4 papers · 2025

    Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia.

    Papers in Europe PMC
  8. 08
    Lin HY4 papers · 2026

    Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan.

    Papers in Europe PMC
  9. 09
    Mackenzie WG4 papers · 2025

    Department of Orthopedic Surgery, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803-3607, USA; Jefferson Medical College, 1600 Rockland Road, Wilmington, DE 19803-3607, USA. Electronic address: wmackenz@nemours.org.

    Papers in Europe PMC
  10. 10
    Murgašová L4 papers · 2026

    Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 105 trials are registered for mucopolysaccharidosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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: mucopolysaccharidosis

105

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

Observational and natural-history studies

21 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

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 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · 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).

Uncertain / not reviewed (8)

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 Mucopolysaccharidosis type 4 — 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.

"Mucopolysaccharidosis type 4" OR "MPSIV" OR "Morquio disease" OR "Mucopolysaccharidosis type IV" OR "Morquio syndrome" OR "Mucopolysaccharidosis IV" OR "eccentro-osteochondrodysplasia" OR "eccentrochondrodysplasia" OR "eccentroosteochondrodysplasia"

Run this search on Europe PMC

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

"Mucopolysaccharidosis type 4" OR "MPSIV" OR "Morquio disease" OR "Mucopolysaccharidosis type IV" OR "Morquio syndrome" OR "Mucopolysaccharidosis IV" OR "eccentro-osteochondrodysplasia" OR "eccentrochondrodysplasia" OR "eccentroosteochondrodysplasia"

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: 2 interventional · 21 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"mucopolysaccharidosis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MPS4

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
  • Publication count (2604) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T14:26:38.016Z