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ORPHA:79270

Sanfilippo syndrome type B

high confidenceSubtype of disorder

Also known as: MPS3B · MPSIIIB · Mucopolysaccharidosis type 3B · Mucopolysaccharidosis type IIIB · N-acetyl-alpha-glucosaminidase deficiency

Publications

1,603

87.4th percentile

Trials

8

Interventional, condition-specific

Researchers

1,288

Distinct authors in sample

Gene link

NAGLU

Definitive

Readiness

5/6

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 (5)

MPS III B · Sanfilippo B · Sanfilippo syndrome B · mucopolysaccharidosis type 3B · mucopolysaccharidosis type IIIB

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — NAGLU

  2. LiteraturePresent

    1,603 matched papers (1,019 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Ovoid thoracolumbar vertebrae; Hyperactivity; Heparan sulfate excretion in urine) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    1 FDA · 1 EMA designations (1 FDA orphan-indication approval) — e.g. recombinant human alpha-N-acetylglucosaminidase Source

  6. Interventional trialPresent

    8 matched on ClinicalTrials.gov (4 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 (NAGLU).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0009656

  • Ovoid thoracolumbar vertebrae
  • Hyperactivity
  • Heparan sulfate excretion in urine
  • Hirsutism
  • Intellectual disability

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

2

Designations · 1 with FDA orphan-indication approval

  • FDA recombinant human alpha-N-acetylglucosaminidaseMucopolysaccharidosis Sanfilippo B syndrome IIIB · 2013-04-15 · Not FDA Approved for Orphan Indication
  • EMA chimeric fusion protein of recombinant human alpha-N-acetylglucosaminidase and human insulin-like growth factor 2 (tralesinidase alfa)Treatment of mucopolysaccharidosis type IIIB · 15/01/2015 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,603

1,603 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,603 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).

1,019 in the last 10 years · high confidence · 87.4th percentile (publications denominator)

Phrase hits: 707 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,288

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
    Ausseil J15 papers · 2026

    Unité Rétrovirus et Transfert Génétique, INSERM U622, Department of Neuroscience, Institut Pasteur, Paris, France.

    Papers in Europe PMC
  2. 02
    Dickson PI10 papers · 2026

    Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502; eneufeld@mednet.ucla.edu MAoyagi-scharber@bmrn.com pdickson@labiomed.org.

    Papers in Europe PMC
  3. 03
    Cooper JD9 papers · 2025

    The Lundquist Institute at Harbor-UCLA Medical Center, and David Geffen School of Medicine, UCLA, Torrance, CA, USA. cooperjd@wustl.edu.

    Papers in Europe PMC
  4. 04
    Heard JM9 papers · 2021

    Department of Neuroscience, Biotherapy and Neurodegenerative Diseases Unit, INSERM U1115, Institut Pasteur, Paris, France.

    Papers in Europe PMC
  5. 05
    Le SQ9 papers · 2025

    Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502;

    Papers in Europe PMC
  6. 06
    Crawford BE8 papers · 2022

    BioMarin Pharmaceutical Inc., Novato, CA, USA.

    Papers in Europe PMC
  7. 07
    Giugliani R8 papers · 2026

    Department of Genetics, Medical Genetics Service and Biodiscovery Laboratory, HCPA, UFRGS, Porto Alegre, Brazil.

    Papers in Europe PMC
  8. 08
    Lawrence R7 papers · 2022

    BioMarin Pharmaceutical Inc., Novato, CA, USA.

    Papers in Europe PMC
  9. 09
    Heldermon CD6 papers · 2025

    Department of Medicine, University of Florida, Gainesville, FL 32610, USA. coy.heldermon@medicine.ufl.edu

    Papers in Europe PMC
  10. 10
    Vitry S6 papers · 2018

    Unité de NeuroImmunologie Virale, Institut Pasteur, Paris, F-75015, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

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

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

high confidence · 91.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

8 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 B — 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 B" OR "MPS3B" OR "MPSIIIB" OR "Mucopolysaccharidosis type 3B" OR "Mucopolysaccharidosis type IIIB" OR "N-acetyl-alpha-glucosaminidase deficiency" OR "MPS III B" OR "Sanfilippo B" OR "Sanfilippo syndrome B") OR ("NAGLU" OR "NAGLU syndrome" OR "NAGLU-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 B" OR "MPS3B" OR "MPSIIIB" OR "Mucopolysaccharidosis type 3B" OR "Mucopolysaccharidosis type IIIB" OR "N-acetyl-alpha-glucosaminidase deficiency" OR "MPS III B" OR "Sanfilippo B" OR "Sanfilippo syndrome B"

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: 8 interventional · 8 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T02:10:37.147Z