Bremova-Ertl, Tatiana; Schneider, Susanne (2023). Current advancements in therapy for Niemann-Pick disease: progress and pitfalls. Expert opinion on pharmacotherapy, 24(11), pp. 1229-1247. Informa Healthcare 10.1080/14656566.2023.2215386
Full text not available from this repository. (Request a copy)INTRODUCTION
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.
AREAS COVERED
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.
EXPERT OPINION
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.
Item Type: |
Journal Article (Review Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology |
UniBE Contributor: |
Brémovà-Ertl, Tatiana |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1465-6566 |
Publisher: |
Informa Healthcare |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
23 May 2023 10:08 |
Last Modified: |
22 Jul 2023 00:14 |
Publisher DOI: |
10.1080/14656566.2023.2215386 |
PubMed ID: |
37211769 |
Uncontrolled Keywords: |
Acetyl-L-Leucine Niemann-Pick Type C arimoclomol disease-modifying treatment experimental treatment miglustat neurodegeneration symptomatic treatment |
URI: |
https://boris.unibe.ch/id/eprint/182771 |
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