Current advancements in therapy for Niemann-Pick disease: progress and pitfalls.

Tatiana Bremova-Ertl, Susanne Schneider

Expert opinion on pharmacotherapy 2023 May-Aug

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Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disorder. To combat the progressive neurodegeneration in NPC, disease-modifying treatment needs to be introduced early in the course of the disease. The only approved, disease-modifying treatment is a substrate-reduction treatment, miglustat. Given miglustat's limited efficacy, new compounds are under development, including gene therapy; however, many are still far from clinical use. Moreover, the phenotypic heterogeneity and variable course of the disease can impede the development and approval of new agents. Here, we offer an expert review of these therapeutic candidates, with a broad scope not only on the main pharmacotherapies, but also on experimental approaches, gene therapies, and symptomatic strategies. The National Institute of Health (NIH) database PubMed has been searched for the combination of the words 'Niemann-Pick type C'+ 'treatment' or 'therapy' or 'trial.' The website clinicaltrials.gov has also been consulted. We conclude a combination of treatment strategies should be sought, with a holistic approach, to improve the quality of life of affected individuals and their families.

Citation

Tatiana Bremova-Ertl, Susanne Schneider. Current advancements in therapy for Niemann-Pick disease: progress and pitfalls. Expert opinion on pharmacotherapy. 2023 May-Aug;24(11):1229-1247