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Disease

Mucopolysaccharidosis I

Late-stage therapeutic developmentEmerging research
MeSHMucopolysaccharidosis I
2
Publications
12
Clinical trials
2023
Latest publication
Latest activity
beta

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
  • 1 clinical trial expected to report results, the earliest in Q1 2027.
Upcoming Milestones
Clinical Milestones1View
Results expected 1
Activity timeline1

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

The current development programme across all trial phases.

Clinical programme
12
All trials
1
Active
6
Late-stage
6
Completed
Late-stage studies

A Phase 4, Single-arm, Open-label Safety and Efficacy Study of Aldurazyme® (Laronidase) as Enzyme Replacement Therapy in Participants With Mucopolysaccharidosis I (MPS I) in China

Phase 4 · Completed · Genzyme, a Sanofi Company

A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients

Phase 3 · Completed · Genzyme, a Sanofi Company

A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I

Phase 3 · Completed · Genzyme, a Sanofi Company

A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Multinational, Clinical Study of Recombinant Human Alpha L-Iduronidase In Patients With Mucopolysaccharidosis I

Phase 3 · Completed · Genzyme, a Sanofi Company

Phase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short Stature

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

A Multicenter, Multinational, Open-Label Study of the Effects of Aldurazyme® (Laronidase) Treatment on Lactation in Women With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants

Phase 4 · Terminated · Genzyme, a Sanofi Company
Recently completed

An Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type I

Phase 1/2 · Completed · JCR Pharmaceuticals Co., Ltd.

A Phase 4, Single-arm, Open-label Safety and Efficacy Study of Aldurazyme® (Laronidase) as Enzyme Replacement Therapy in Participants With Mucopolysaccharidosis I (MPS I) in China

Phase 4 · Completed · Genzyme, a Sanofi Company

A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I

N/A · Completed · Patricia I. Dickson, M.D.

A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients

Phase 3 · Completed · Genzyme, a Sanofi Company

A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I

Phase 3 · Completed · Genzyme, a Sanofi Company

A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Multinational, Clinical Study of Recombinant Human Alpha L-Iduronidase In Patients With Mucopolysaccharidosis I

Phase 3 · Completed · Genzyme, a Sanofi Company

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
20172023
Major themes3
  • Codon, Nonsense1
  • Genetic Therapy1
  • Mucopolysaccharidosis I1
Leading journals2
  • Genome biology1
  • Journal of inherited metabolic disease1
Leading researchers8
  • Aiuti A1
  • Bernardo ME1
  • Calbi V1
  • Dai L1
  • Fumagalli F1
  • Nie Y1
  • Penati R1
  • Sun X1
Affiliations (unnormalised)5
  • Biomedical Pioneering Innovation Center1
  • Changping Laboratory1
  • IRCCS San Raffaele Scientific Institute1
  • San Raffaele Telethon Institute for Gene Therapy (SR-TIGET)1
  • Vita Salute San Raffaele University1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders.

Identifiers
MeSHMucopolysaccharidosis I
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.