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Disease

Mucopolysaccharidosis III

Late-stage therapeutic developmentEmerging research
MeSHMucopolysaccharidosis III
2
Publications
8
Clinical trials
2024
Latest publication
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low
Key developments
  • 4 clinical trials expected to report results, the earliest in Q2 2027.
Upcoming Milestones
Clinical Milestones4View
Results expected 4
Activity timeline4

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Vestronidase alfaapproved

Approval — Mepsevii is indicated for the treatment of non-neurological manifestations of Mucopolysac… (2018)

Idursulfaseapproved

Approval — Elaprase is indicated for the long-term treatment of patients with Hunter syndrome (mucop… (2007)

Galsulfaseapproved

Approval — Naglazyme is indicated for long-term enzyme-replacement therapy in patients with a confir… (2006)

Laronidaseapproved

Approval — Aldurazyme is indicated for long-term enzyme replacement therapy in patients with a confi… (2003)

Clinical trials

5 sponsors · 1 new · 0 completed in the last 12 months (net +1)

The current development programme across all trial phases.

Clinical programme
8
All trials
4
Active
2
Late-stage
2
Completed
Late-stage studies

Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA

Phase 2/3 · Recruiting · Ultragenyx Pharmaceutical Inc

Randomized, Double-Blind, Placebo-Controlled Cross-Over Study to Evaluate the Effects of Cannabidiol on Neurobehavioral and Function Outcomes in Sanfilippo Syndrome

Phase 2/3 · Recruiting · Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2018emaApproval — Vestronidase alfa· Mepsevii is indicated for the treatment of non-neurological manifestations of Mucopolysaccharidosis VII (MPS VII; Sly syndrome). source ↗
2007emaApproval — Idursulfase· Elaprase is indicated for the long-term treatment of patients with Hunter syndrome (mucopolysaccharidosis II, MPS II). Heterozygous females were not studied in the clinical trials. source ↗
2006emaApproval — Galsulfase· Naglazyme is indicated for long-term enzyme-replacement therapy in patients with a confirmed diagnosis of mucopolysaccharidosis VI (MPS VI; N-acetylgalactosamine-4-sulfatase deficiency; Maroteaux-Lamy syndrome) (see section 5.1). As for all lysosomal genetic disorders, it is of primary importance, especially in severe forms, to initiate treatment as early as possible, before appearance of non-reversible clinical manifestations of the disease. A key issue is to treat young patients aged <5 years suffering from a severe form of the disease, even though patients <5 years were not included in the pivotal phase-3 study. source ↗
2003emaApproval — Laronidase· Aldurazyme is indicated for long-term enzyme replacement therapy in patients with a confirmed diagnosis of mucopolysaccharidosis I (MPS I; alpha-L-iduronidase deficiency) to treat the nonneurological manifestations of the disease. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Research activity

2 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20182024
Major themes2
  • Mucopolysaccharidosis III1
  • Poly I-C1
Leading journals2
  • Brain : a journal of neurology1
  • EMBO molecular medicine1
Leading researchers8
  • Bigger BW2
  • Holley RJ2
  • Liao AY2
  • O'Leary C2
  • Parker H2
  • Agbandje-McKenna M1
  • Aguado È1
  • Aldrin-Kirk P1
Affiliations (unnormalised)6
  • Center for Structural Biology1
  • Centre for Regenerative Medicine1
  • Centre Hospitalo-Universitaire de Toulouse1
  • Geoffrey Jefferson Brain Research Centre1
  • Institute for Women's Health1
  • Lydia Becker Institute of Immunology and Inflammation1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.

Identifiers
MeSHMucopolysaccharidosis III
References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.