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ORPHA:584

Mucopolysaccharidosis type 7

low confidenceDisorder

Also known as: Beta-glucuronidase deficiency · MPS7 · MPSVII · Mucopolysaccharidosis type VII · Sly disease

Publications

7,749

Trials

7

Interventional, condition-specific

Researchers

1,168

Distinct authors in sample

Gene link

GUSB

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, , coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve 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 (6)

Mucopolysaccharidosis Type VII · Sly syndrome · beta-glucuronidase deficiency · mucopolysaccharidosis type 7 · mucopolysaccharidosis type VII · mucopolysaccharidosis, mps-VII

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — GUSB

  2. LiteraturePresent

    7,749 matched papers (4,818 in last 10 years) Source

  3. Phenotype characterisedPresent

    91 HPO annotations (e.g. Inguinal hernia; Coarse facial features; Short neck) Source

  4. Animal modelPresent

    10 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 FDA designation (none yet with FDA orphan-indication approval) — e.g. vestronidase alfa-vjbk Source

  6. Interventional trialPresent

    7 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 (GUSB).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

91

Associated phenotypes · MONDO:0009662

  • Inguinal hernia
  • Coarse facial features
  • Short neck
  • Lymphedema
  • Intellectual disability

Showing 5 of 91 — open Monarch for the full list.

Animal models (Monarch / Alliance)

10

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)

1

Designation · no FDA orphan-indication approval yet

  • FDA vestronidase alfa-vjbk (Mepsevii)Mucopolysaccharidosis VII · 2012-02-16

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0009662

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

7,749

7,749 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,749 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).

4,818 in the last 10 years · low confidence

Phrase hits: 975 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,168

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
    Giugliani R8 papers · 2026

    Hospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, Brazil.

    Papers in Europe PMC
  2. 02
    Casal ML7 papers · 2024

    Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  3. 03
    Harmatz P6 papers · 2025

    Fetal Treatment Center, University of California, San Francisco, CA, USA.

    Papers in Europe PMC
  4. 04
    Sands MS6 papers · 2017

    2 Department of Internal Medicine, Washington University School of Medicine , St. Louis, Missouri.

    Papers in Europe PMC
  5. 05
    Sly WS6 papers · 2020

    Saint Louis University School of Medicine, St. Louis, MO, United States. Electronic address: slyws@slu.edu.

    Papers in Europe PMC
  6. 06
    Smith LJ6 papers · 2024

    Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  7. 07
    Kosuga M5 papers · 2025

    Division of Medical Genetics, National Center for Child Health and Development, , Setagaya, Japan.

    Papers in Europe PMC
  8. 08
    Okuyama T5 papers · 2026

    Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.

    Papers in Europe PMC
  9. 09
    Datta R4 papers · 2025

    Department of Biological Sciences, Indian Institute of Science Education and Research (IISER) Kolkata, Mohanpur, West Bengal, India. Electronic address: rupakdatta@iiserkol.ac.in.

    Papers in Europe PMC
  10. 10
    Lau YK4 papers · 2024

    Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; none in our sample are currently recruiting. 101 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 · last trial check 28 July 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

low confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 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

101

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

4 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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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 (6)

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 7 — 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 7" OR "Beta-glucuronidase deficiency" OR "MPSVII" OR "Mucopolysaccharidosis type VII" OR "Sly disease" OR "Sly syndrome" OR "mucopolysaccharidosis, mps-VII") OR ("GUSB" OR "GUSB syndrome" OR "GUSB-related")

Run this search on Europe PMC

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

"Mucopolysaccharidosis type 7" OR "Beta-glucuronidase deficiency" OR "MPSVII" OR "Mucopolysaccharidosis type VII" OR "Sly disease" OR "Sly syndrome" OR "mucopolysaccharidosis, mps-VII"

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: 7 interventional · 4 observational · 2 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: MPS7

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 (7749) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T14:27:28.025Z