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ORPHA:581

Mucopolysaccharidosis type 3

medium confidenceDisorder

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

Publications

7,555

94.5th percentile

Trials

18

Interventional, condition-specific

Researchers

1,219

Distinct authors in sample

Gene link

HGSNAT

Definitive

Readiness

6/6

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — HGSNAT

  2. LiteraturePresent

    7,555 matched papers (4,790 in last 10 years) Source

  3. Phenotype characterisedPresent

    259 HPO annotations (e.g. Cellular metachromasia; Hearing impairment; Asymmetric septal hypertrophy) Source

  4. Animal modelPresent

    7 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. Trehalose Source

  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)

259

Associated phenotypes · MONDO:0018937

  • Cellular metachromasia
  • Hearing impairment
  • Asymmetric septal hypertrophy
  • Hyperactivity
  • Rod-cone dystrophy

Showing 5 of 259 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

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 · 1 with FDA orphan-indication approval

  • FDA TrehaloseMucopolysaccharidosis type III mps iii · 2020-04-29 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

11

Drugs / clinical candidates · MONDO_0018937

CTD chemicals (MyDisease.info)

3 associated chemicals · 19 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Lamotrigine · therapeutic
  • Olanzapine · therapeutic
  • Risperidone · therapeutic

Pathways: Glycosaminoglycan degradation; Metabolic pathways; Lysosome; Heparan sulfate degradation; Keratan sulfate degradation; Metabolism; Glycosaminoglycan metabolism; Keratan sulfate/keratin metabolism

MyDisease.info · MONDO:0018937

Literature

Is anyone studying this?

7,555

7,555 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.

7,555 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).

4,790 in the last 10 years · medium confidence · 94.5th 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 11 September 2026 · last trial check 28 July 2026

18 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.5th percentile).

medium confidence · 94.5th 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

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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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 (7)

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 3 — 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 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" OR "HGSNAT syndrome" OR "HGSNAT-related")

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"

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: ok — strategies attempted: phrase; 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