Intravenous enzyme replacement therapy in mucopolysaccharidoses: Clinical effectiveness and limitations: International Journal of Molecular Sciences

R. Parini, F. Deodato

Research output: Contribution to journalArticlepeer-review


The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses (MPSs) I, II, IVA, VI and VII, gained in phase III clinical trials and in observational post-approval studies. Post-marketing data are sometimes conflicting or controversial, possibly depending on disease severity, differently involved organs, age at starting treatment, and development of anti-drug antibodies (ADAs). There is general agreement that ERT is effective in reducing urinary glycosaminoglycans and liver and spleen volume, while heart and joints outcomes are variable in different studies. Effectiveness on cardiac valves, trachea and bronchi, hearing and eyes is definitely poor, probably due to limited penetration in the specific tissues. ERT does not cross the blood–brain barrier, with the consequence that the central nervous system is not cured by intravenously injected ERT. All patients develop ADAs but their role in ERT tolerance and effectiveness has not been well defined yet. Lack of reliable biomarkers contributes to the uncertainties about effectiveness. The data obtained from affected siblings strongly indicates the need of neonatal screening for treatable MPSs. Currently, other treatments are under evaluation and will surely help improve the prognosis of MPS patients. © 2020 by the authors. Licensee MDPI, Basel, Switzerland. T.
Original languageEnglish
JournalInt. J. Mol. Sci.
Issue number8
Publication statusPublished - 2020


  • Elosulfase
  • Enzyme replacement therapy
  • ERT
  • Galsulfase vestronidase
  • Idursulfase
  • Laronidase
  • MPS
  • Mucopolysaccharidoses
  • Mucopolysaccharidosis
  • beta glucuronidase
  • dermatan sulfate
  • drug antibody
  • elosulfase alfa
  • galsulfase
  • glycosaminoglycan
  • heparan sulfate
  • iduronate 2 sulfatase
  • keratan sulfate
  • laronidase
  • levo iduronidase
  • n acetylgalactosamine 4 sulfatase
  • n acetylgalactosamine 6 sulfatase
  • recombinant enzyme
  • vestronidase alfa
  • biological marker
  • angioneurotic edema
  • apnea hypopnea index
  • atherosclerosis
  • bronchoconstriction
  • clinical outcome
  • daily life activity
  • enzyme replacement
  • European Quality of Life 5 Dimensions questionnaire
  • fever
  • forced expiratory volume
  • forced vital capacity
  • Health Assessment Questionnaire
  • hearing impairment
  • heart left ventricle hypertrophy
  • human
  • Hunter syndrome
  • Hurler syndrome
  • infusion related reaction
  • lung function
  • macroglossia
  • Maroteaux Lamy syndrome
  • maximal voluntary ventilation
  • Morquio syndrome
  • mucopolysaccharidosis
  • mucopolysaccharidosis type 7
  • nausea and vomiting
  • New York Heart Association class
  • oxidative stress
  • oxygen saturation
  • patient-reported outcome
  • phase 2 clinical trial (topic)
  • phase 3 clinical trial (topic)
  • prevalence
  • quality of life
  • questionnaire
  • range of motion
  • rash
  • respiratory function
  • Review
  • rhinitis
  • short stature
  • six minute walk test
  • sleep disordered breathing
  • spirometry
  • urticaria
  • adolescent
  • adult
  • adverse event
  • child
  • clinical trial (topic)
  • disease management
  • disease predisposition
  • infant
  • male
  • metabolism
  • middle aged
  • preschool child
  • procedures
  • symptom assessment
  • treatment outcome
  • young adult
  • Adolescent
  • Adult
  • Biomarkers
  • Child
  • Child, Preschool
  • Clinical Trials as Topic
  • Disease Management
  • Disease Susceptibility
  • Enzyme Replacement Therapy
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Symptom Assessment
  • Treatment Outcome
  • Young Adult


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