Correction: Corrigendum: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

Berrier, Kathryn L.; Kazi, Zoheb B.; Prater, Sean N.; Bali, Deeksha; Goldstein, Jennifer; Ștefănescu, Mihaela; Rehder, Catherine; Botha, Eleanor G.; Ellaway, Carolyn; Bhattacharya, Kaustuv; Tylki‐Szymańska, Anna; Karabul, Nesrin; Rosenburg, Amy; Kishnani, Priya S.

doi:10.1038/gim.2015.57

Cited by 26 publications

References 19 publications

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Enzyme replacement therapy for infantile-onset Pompe disease

Chen

Zhang

Quan

2017

Cochrane Database of Systematic Reviews

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The search found no trials comparing the effectiveness and safety of enzyme replacement therapy to another intervention, no intervention or placebo. One small randomized controlled trial provided no robust evidence for which dosing schedule of alglucosidase alfa was more effective to treat infantile-onset Pompe disease. It is not deemed ethical to proceed with new placebo-controlled trials, therefore a randomized controlled trial with a large sample size comparing different dosing schedules of enzyme replacement therapy is needed. The main clinical outcomes (i.e. cardiac function, invasive ventilation, survival, motor development, adverse events (e.g. the development of antibodies)) should be standardized when evaluated and reported.

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Enzyme replacement therapy for infantile-onset Pompe disease

Chen

Zhang

Quan

2017

Cochrane Database of Systematic Reviews

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Clinical Gene Therapy Trials for Pompe Disease

Liberati

Salabarria

Corti

et al. 2019

Muscle Gene Therapy

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Current and Future Treatments for Lysosomal Storage Disorders

Rastall

Amalfitano

2017

Curr Treat Options Neurol

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Purpose of review Lysosomal storage disorders (LSDs) are a class of genetic disorders that are a testing ground for the invention of novel therapeutics including enzyme replacement therapy (ERT), substrate reduction therapy (SRT), gene therapy, and hematopoietic stem cell transplant (HSCT). This review summarizes recently approved drugs, then examines the successful clinical trials in gene therapy and HSCT. Recent findings The FDA has recently approved a second SRT by reversing an earlier FDA decision, suggesting a favorable regulatory landscape going forward. Adeno-associated virus therapies, adenovirus therapies, and HSCT have overcome limitations of earlier clinical and preclinical trials, suggesting that gene therapy may be a reality for LSDs in the near future. At the same time, the first EU-approved gene therapy drug, Glybera, has been discontinued, and other ex vivo-based therapies although approved for clinical use have failed to be widely adapted and are no longer economically viable. Summary There are now 11 ERTs and two SRTs approved for LSDs in the USA. Gene therapy approaches and HSCT have also demonstrated promising clinical trial results suggesting that these therapies are on the frontier. Challenges that remain include navigating immune responses, developing drugs capable of crossing the blood-brain barrier (BBB), developing therapies that can reverse end-organ damage, and achieving these goals in a safe, ethical, and financially sustainable manner. The amount of active development and a track record of iterative progress suggest that treatments for LSDs will continue to be a field of innovation, problem solving, and success.

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Correction: Corrigendum: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

Cited by 26 publications

References 19 publications

Enzyme replacement therapy for infantile-onset Pompe disease

Enzyme replacement therapy for infantile-onset Pompe disease

Clinical Gene Therapy Trials for Pompe Disease

Current and Future Treatments for Lysosomal Storage Disorders

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