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ORPHA:79269

Sanfilippo syndrome type A

medium confidenceSubtype of disorder

Also known as: Heparan sulfamidase deficiency · MPS3A · MPSIIIA · Mucopolysaccharidosis type 3A · Mucopolysaccharidosis type IIIA

Publications

7,150

93.6th percentile

Trials

11

Interventional, condition-specific

Researchers

1,306

Distinct authors in sample

Gene link

SGSH

Definitive

Readiness

6/6

Stages with a signal

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 (6)

MPS III A · Sanfilippo A · Sanfilippo syndrome a · heparan sulfamidase deficiency · mucopolysaccharidosis type 3A · mucopolysaccharidosis type IIIA

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 — SGSH

  2. LiteraturePresent

    7,150 matched papers (3,884 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Hearing impairment; Seizure; Asymmetric septal hypertrophy) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) Source

  5. Orphan designationPresent

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

  6. Interventional trialPresent

    11 matched on ClinicalTrials.gov (3 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 (SGSH).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

26

Associated phenotypes · MONDO:0009655

  • Hearing impairment
  • Seizure
  • Asymmetric septal hypertrophy
  • Hepatomegaly
  • Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity

Showing 5 of 26 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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

8

Drugs / clinical candidates · MONDO_0009655

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

7,150

7,150 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.

7,150 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).

3,884 in the last 10 years · medium confidence · 93.6th percentile (publications denominator)

Phrase hits: 6,491 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,306

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
    Hemsley KM11 papers · 2026

    Childhood Dementia Research Group, Hopwood Centre for Neurobiology, Lifelong Health Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia. Electronic address: Kim.Hemsley@flinders.edu.au.

    Papers in Europe PMC
  2. 02
    Snel MF11 papers · 2025

    Proteomics, Metabolomics and MS-Imaging Facility, South Australian Health, and Medical Research Institute, Adelaide, SA, Australia.

    Papers in Europe PMC
  3. 03
    O'Neill C9 papers · 2026

    Cure Sanfilippo Foundation, Columbia, SC, USA.

    Papers in Europe PMC
  4. 04
    Pierzynowska K9 papers · 2026

    Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.

    Papers in Europe PMC
  5. 05
    Gaffke L8 papers · 2026

    Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.

    Papers in Europe PMC
  6. 06
    Węgrzyn G8 papers · 2026

    Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.

    Papers in Europe PMC
  7. 07
    Giugliani R7 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Trim PJ7 papers · 2025

    Proteomics, Metabolomics and MS-Imaging Facility, South Australian Health, and Medical Research Institute, Adelaide, SA, Australia.

    Papers in Europe PMC
  9. 09
    Beard H6 papers · 2026

    Childhood Dementia Research Group, Hopwood Centre for Neurobiology, Lifelong Health Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.

    Papers in Europe PMC
  10. 10
    Lau AA6 papers · 2025

    Childhood Dementia Research Group, Flinders Health and Medical Research Institute College of Medicine and Public Health Flinders University, Bedford Park, South Australia, Australia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).

medium confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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.

None of the matched observational studies is currently listed as 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

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 (1)

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 Sanfilippo syndrome type A — 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.

("Sanfilippo syndrome type A" OR "Heparan sulfamidase deficiency" OR "MPS3A" OR "MPSIIIA" OR "Mucopolysaccharidosis type 3A" OR "Mucopolysaccharidosis type IIIA" OR "MPS III A" OR "Sanfilippo A" OR "Sanfilippo syndrome a") OR ("SGSH" OR "SGSH syndrome" OR "SGSH-related")

Run this search on Europe PMC

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

"Sanfilippo syndrome type A" OR "Heparan sulfamidase deficiency" OR "MPS3A" OR "MPSIIIA" OR "Mucopolysaccharidosis type 3A" OR "Mucopolysaccharidosis type IIIA" OR "MPS III A" OR "Sanfilippo A" OR "Sanfilippo syndrome a"

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: 11 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T02:10:15.875Z