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ORPHA:309310

Mucopolysaccharidosis type 4B

high confidenceSubtype of disorder

Also known as: Beta-D-galactosidase deficiency · MPS4B · MPSIVB · Morquio disease type B · Mucopolysaccharidosis type IVB

Publications

187

68.2th percentile

Trials

1

Interventional, condition-specific

Researchers

1,132

Distinct authors in sample

Gene link

GLB1

Definitive

Readiness

3/6

Stages with a signal

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 (4)

MPS 4B · MPS IV B · Morquio syndrome B · mucopolysaccharidosis type IVB

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

    Definitive — GLB1

  2. LiteraturePresent

    187 matched papers (110 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 (GLB1).

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?

187

187 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.

187 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).

110 in the last 10 years · high confidence · 68.2th percentile (publications denominator)

Phrase hits: 187 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,132

Distinct author names in 187 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
    Giugliani R14 papers · 2026

    Medical Genetics Service, HCPA, Dep. Genetics, UFRGS, and INAGEMP, Porto Alegre, Brazil.

    Papers in Europe PMC
  2. 02
    Callahan JW5 papers · 2012

    Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, ON, Canada. jwc@sickkids.on.ca

    Papers in Europe PMC
  3. 03
    Tifft CJ5 papers · 2026

    Glycosphingolipid and Glycoprotein Disorders Unit, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

    Papers in Europe PMC
  4. 04
    Tomatsu S5 papers · 2024

    Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address: stomatsu@nemours.org.

    Papers in Europe PMC
  5. 05
    Beck M4 papers · 2001

    Department of Paediatrics, University of Mainz, FRG.

    Papers in Europe PMC
  6. 06
    Higaki K4 papers · 2020

    Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Yonago 683-8503, Japan.

    Papers in Europe PMC
  7. 07
    Michelin-Tirelli K4 papers · 2025

    Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

    Papers in Europe PMC
  8. 08
    Morrone A4 papers · 2024

    Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, and Department of Neurosciences, Pharmacology and Child Health. University of Florence, Viale Pieraccini 24, 50139 Firenze, Italy.

    Papers in Europe PMC
  9. 09
    Riegel M4 papers · 2025

    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.

    Papers in Europe PMC
  10. 10
    Suzuki Y4 papers · 2018

    Medical Education Development Center, Gifu University.

    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. 107 trials are registered for mucopolysaccharidosis, 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).

high 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: mucopolysaccharidosis

107

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.

"Mucopolysaccharidosis type 4B" OR "Beta-D-galactosidase deficiency" OR "MPS4B" OR "MPSIVB" OR "Morquio disease type B" OR "Mucopolysaccharidosis type IVB" OR "MPS 4B" OR "MPS IV B" OR "Morquio syndrome B"

Run this search on Europe PMC

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

"Mucopolysaccharidosis type 4B" OR "Beta-D-galactosidase deficiency" OR "MPS4B" OR "MPSIVB" OR "Morquio disease type B" OR "Mucopolysaccharidosis type IVB" OR "MPS 4B" OR "MPS IV B" OR "Morquio syndrome B" OR "GLB1"

Recall-expansion terms: GLB1

Interventional trials matched via: recall-expansion (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:

"mucopolysaccharidosis"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T12:57:15.175Z