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ORPHA:581

Mucopolysaccharidosis type 3

medium confidenceDisorder

Also known as: MPS3 · MPSIII · Mucopolysaccharidosis type III · Sanfilippo disease · Sanfilippo syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

7,180

97.3th percentile

Trials

18

Interventional, condition-specific

Researchers

1,219

Distinct authors in sample

Gene link

HGSNAT

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A group of rare lysosomal storage diseases characterized by neurocognitive decline, loss of functional abilities and premature death. There are four etiological subtypes of mucopolysaccharidosis type 3 (MPS III, Sanfilippo syndrome) called Sanfilippo syndrome type A, B, C, and D. Each subtype is caused by deficiency of a particular involved in the degradation of heparan sulfate leading to substrate accumulation and cellular dysfunction.

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 (4)

Mucopoly-saccharidosis type 3 · Mucopolysaccharidosis Type III · heparan sulphate sulfatase deficiency · mucopolysaccharidosis type III

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 — HGSNAT

  2. LiteraturePresent

    7,180 matched papers (4,489 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

    18 matched on ClinicalTrials.gov (5 recruiting in sample)

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 (HGSNAT).

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?

7,180

7,180 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=5449) is 41.

7,180 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).

4,489 in the last 10 years · medium confidence · 97.3th percentile (publications denominator)

Phrase hits: 7,180 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,219

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
    Pierzynowska K11 papers · 2026

    Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Gdańsk, Poland.

    Papers in Europe PMC
  2. 02
    Snel MF10 papers · 2025

    Proteomics, Metabolomics and MS-Imaging Core Facility, SAHMRI, Adelaide, South Australia, 5000, Australia.

    Papers in Europe PMC
  3. 03
    Węgrzyn G10 papers · 2026

    Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Gdańsk, Poland.

    Papers in Europe PMC
  4. 04
    Hemsley KM9 papers · 2026

    Childhood Dementia Research Group, Flinders Health and Medical Research Institute, Flinders University, Bedford Park, South Australia, 5042, Australia.

    Papers in Europe PMC
  5. 05
    Gaffke L7 papers · 2026

    Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Gdańsk, Poland.

    Papers in Europe PMC
  6. 06
    Lau AA7 papers · 2025

    Childhood Dementia Research Group, Flinders Health and Medical Research Institute, Flinders University, Bedford Park, South Australia, 5042, Australia.

    Papers in Europe PMC
  7. 07
    Trim PJ7 papers · 2025

    Proteomics, Metabolomics and MS-Imaging Core Facility, SAHMRI, Adelaide, South Australia, 5000, Australia.

    Papers in Europe PMC
  8. 08
    Cyske Z6 papers · 2026

    Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Gdańsk, Poland.

    Papers in Europe PMC
  9. 09
    Giugliani R6 papers · 2026

    DASA, Federal University of Rio Grande do Sul (UFRGS), Hospital de Clinicas de Porto Alegre (HCPA), Casa dos Raros, Porto Alegre, Brazil.

    Papers in Europe PMC
  10. 10
    O'Neill C6 papers · 2026

    Cure Sanfilippo Foundation, Columbia, SC, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

18

interventional trials for this specific condition

18 interventional trials matched this specific condition name; 5 currently recruiting in our sample. 98 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

18 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.1th percentile).

medium confidence · 94.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

18 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: mucopolysaccharidosis

98

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

14 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

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 3" OR "MPSIII" OR "Mucopolysaccharidosis type III" OR "Sanfilippo disease" OR "Sanfilippo syndrome" OR "Mucopoly-saccharidosis type 3" OR "heparan sulphate sulfatase deficiency"

Run this search on Europe PMC

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

"Mucopolysaccharidosis type 3" OR "MPSIII" OR "Mucopolysaccharidosis type III" OR "Sanfilippo disease" OR "Sanfilippo syndrome" OR "Mucopoly-saccharidosis type 3" OR "heparan sulphate sulfatase deficiency" OR "HGSNAT"

Recall-expansion terms: HGSNAT

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: 18 interventional · 14 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"mucopolysaccharidosis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MPS3

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 2026-07-26T14:26:26.611Z