Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.
Journal
Drugs
ISSN: 1179-1950
Titre abrégé: Drugs
Pays: New Zealand
ID NLM: 7600076
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
pubmed:
27
11
2020
medline:
26
10
2021
entrez:
26
11
2020
Statut:
ppublish
Résumé
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage diseases that together represent the most common cause of dementia in children. Phenotypically, patients have visual impairment, cognitive and motor decline, epilepsy, and premature death. A primary challenge is to halt and/or reverse these diseases, towards which developments in potential effective therapies are encouraging. Many treatments, including enzyme replacement therapy (for CLN1 and CLN2 diseases), stem-cell therapy (for CLN1, CLN2, and CLN8 diseases), gene therapy vector (for CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN10, and CLN11 diseases), and pharmacological drugs (for CLN1, CLN2, CLN3, and CLN6 diseases) have been evaluated for safety and efficacy in pre-clinical and clinical studies. Currently, cerliponase alpha for CLN2 disease is the only approved therapy for NCL. Lacking is any study of potential treatments for CLN4, CLN9, CLN12, CLN13 or CLN14 diseases. This review provides an overview of genetics for each CLN disease, and we discuss the current understanding from pre-clinical and clinical study of potential therapeutics. Various therapeutic interventions have been studied in many experimental animal models. Combination of treatments may be useful to slow or even halt disease progression; however, few therapies are unlikely to even partially reverse the disease and a complete reversal is currently improbable. Early diagnosis to allow initiation of therapy, when indicated, during asymptomatic stages is more important than ever.
Identifiants
pubmed: 33242182
doi: 10.1007/s40265-020-01440-7
pii: 10.1007/s40265-020-01440-7
doi:
Substances chimiques
Pharmaceutical Preparations
0
Tripeptidyl-Peptidase 1
0
TPP1 protein, human
EC 3.4.14.9
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
101-123Références
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