Enzyme Replacement Therapy in Mucopolysaccharidosis Type I: The Sooner the Better

Coppa, Giovanni V.; Baldoni, Irene; Bruni, Stefano; Gabrielli, Orazio

doi:10.1016/s0149-2918(07)80458-9

Cited by 1 publication

(3 citation statements)

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“…Although the sibling studies included in this review mainly yielded nonverifiable data, these reports suggest that early start of ERT may prevent development of some of the characteristic signs and symptoms. 32,36,40,42,43,45 A few limitations of our study need to be addressed. First, assessment of effectiveness was established in consensus by the authors, based upon assumptions of improvement or stabilization: it is well known that MPS I patients with advanced disease may not have any reversible disease and stabilization is the best possible outcome.…”

Section: Resultsmentioning

confidence: 99%

“…Perhaps we could learn more from sibling studies, in which the younger sibling(s) started with ERT at a much earlier age, comparing signs and symptoms several years later. Although the sibling studies included in this review mainly yielded nonverifiable data, these reports suggest that early start of ERT may prevent development of some of the characteristic signs and symptoms …”

Section: Discussionmentioning

confidence: 99%

“…Finally, patients may have been included in multiple studies leading to an overrepresentation of the same patients. It was for instance clear that the studies of Coppa et al and Gabrielli et al report on the same patients and we therefore assessed outcomes available of the most recent study. However, we may have missed other studies that report on the same patients.…”

Section: Discussionmentioning

confidence: 99%

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Limited data to evaluate real‐world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I

Kuiper

Nijmeijer

Roelofs

et al. 2019

J of Inher Metab Disea

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Orphan medicinal products (OMPs) are often authorized based on pivotal phase II and III trials that do not always meet high quality criteria. Laronidase is an example of an OMP used for treatment of mucopolysaccharidosis I (MPS I). One randomized controlled trial demonstrated efficacy on several somatic symptoms. However, effectiveness in the real‐world setting remains to be determined. We performed a systematic review to evaluate the effectiveness of enzyme replacement therapy (ERT) on clinically relevant outcomes in MPS I. A search in OVID MEDLINE and OVID EMBASE was performed. Postmarketing studies including MPS I patients treated with ERT and reporting data on any of 19 predefined clinical outcome measures obtained before the start of ERT and at follow‐up were eligible. Three scenarios were used to define effectiveness of ERT. The first scenario (A) assumes that improvement is essential, while the second scenario (B) also includes stabilization of signs and symptoms. The third scenario (C) defines failure of therapy. Twenty case series were included. The criteria indicating effectiveness (A), were met for four of 19 outcome measures while the criteria, indicating unclear effectiveness (B) were met for five of 19. For one of 19 nonverifiable data were reported and for nine of 19 no overall conclusions could be drawn (ambiguous results). Real‐world effectiveness of laronidase is extremely difficult to assess, 15 years after marketing authorization. This is partially due to insufficient natural history data. We recommend the conduct of rigorous and independent postmarketing studies including core outcome sets for OMPs, enforced by marketing and/or reimbursing authorities aiming to demonstrate real‐world effectiveness within a reasonable time frame.

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