ORPHA:79269
Sanfilippo syndrome type A
Also known as: Heparan sulfamidase deficiency · MPS3A · MPSIIIA · Mucopolysaccharidosis type 3A · Mucopolysaccharidosis type IIIA
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
6,491
96.6th percentile
Trials
11
Interventional, condition-specific
Researchers
1,306
Distinct authors in sample
Gene link
SGSH
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009655
- OMIM:252900
- UMLS:C0086647
- NCIT:C84897
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — SGSH
- LiteraturePresent
6,491 matched papers (3,436 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
6,491
6,491 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.
6,491 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).
3,436 in the last 10 years · medium confidence · 96.6th percentile (publications denominator)
Phrase hits: 6,491 · MeSH hits: 0
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.
- 01Hemsley 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 - 02Snel MF11 papers · 2025
Proteomics, Metabolomics and MS-Imaging Facility, South Australian Health, and Medical Research Institute, Adelaide, SA, Australia.
Papers in Europe PMC - 03
- 04Pierzynowska K9 papers · 2026
Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 05Gaffke L8 papers · 2026
Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 06Węgrzyn G8 papers · 2026
Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 07Giugliani R7 papers · 2026
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Papers in Europe PMC - 08Trim PJ7 papers · 2025
Proteomics, Metabolomics and MS-Imaging Facility, South Australian Health, and Medical Research Institute, Adelaide, SA, Australia.
Papers in Europe PMC - 09Beard 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 - 10Lau 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 27 July 2026
11 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.1th percentile).
medium confidence · 92.1th 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.
- NCT02716246·RECRUITING·Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
Conditions: MPS IIIA · Sanfilippo Syndrome · Sanfilippo A · Mucopolysaccharidosis III·Matched via name phrase
- NCT04360265·ENROLLING BY INVITATION·Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIA
Conditions: Mucopolysaccharidosis IIIA · MPS IIIA · Sanfilippo Syndrome · Sanfilippo A·Matched via name phrase
- NCT06567769·RECRUITING·Phase 1 Study of GC1130A in Patients With Sanfilippo Syndrome Type A (MPS IIIA)
Conditions: Sanfilippo Syndrome Type A·Matched via name phrase
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.
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 2026-07-26This 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"
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" OR "SGSH"
Recall-expansion terms: SGSH
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: suspect — strategies attempted: phrase, recall-expansion; 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