Current and future prospects for gene therapy for rare genetic diseases affecting the brain and spinal cord

TL Jensen, CR Gøtzsche… - Frontiers in molecular …, 2021 - frontiersin.org
In recent years, gene therapy has been raising hopes toward viable treatment strategies for
rare genetic diseases for which there has been almost exclusively supportive treatment. We …

Delivering gene therapy for mucopolysaccharide diseases

SR Wood, BW Bigger - Frontiers in Molecular Biosciences, 2022 - frontiersin.org
Mucopolysaccharide diseases are a group of paediatric inherited lysosomal storage
diseases that are caused by enzyme deficiencies, leading to a build-up of …

A highly efficacious PS gene editing system corrects metabolic and neurological complications of mucopolysaccharidosis type I

LI Ou, MJ Przybilla, O Ahlat, S Kim, P Overn, J Jarnes… - Molecular Therapy, 2020 - cell.com
Our previous study delivered zinc finger nucleases to treat mice with mucopolysaccharidosis
type I (MPS I), resulting in a phase I/II clinical trial (ClinicalTrials. gov: NCT02702115) …

A novel gene editing system to treat both Tay–Sachs and Sandhoff diseases

L Ou, MJ Przybilla, AF Tăbăran, P Overn… - Gene therapy, 2020 - nature.com
The GM2-gangliosidoses are neurological diseases causing premature death, thus
developing effective treatment protocols is urgent. GM2-gangliosidoses result from …

Clinical trials and promising preclinical applications of CRISPR/Cas gene editing

B Çerçi, IA Uzay, MK Kara, P Dincer - Life Sciences, 2023 - Elsevier
Abstract Treatment of genetic disorders by genomic manipulation has been the unreachable
goal of researchers for many decades. Although our understanding of the genetic basis of …

Adeno-associated virus vector-based gene therapies for pediatric diseases

K Muramatsu, S Muramatsu - Pediatrics & Neonatology, 2023 - Elsevier
Gene therapy using adeno-associated virus (AAV) is a rapidly developing technology with
widespread treatment potential. AAV2 vectors injected directly into the brain by stereotaxic …

Gene editing strategies to treat lysosomal disorders: The example of mucopolysaccharidoses

FNS Fachel, L Frâncio, É Poletto, RS Schuh… - Advanced Drug Delivery …, 2022 - Elsevier
Lysosomal storage disorders are a group of progressive multisystemic hereditary diseases
with a combined incidence of 1: 4,800. Here we review the clinical and molecular …

Genome editing for mucopolysaccharidoses

E Poletto, G Baldo, N Gomez-Ospina - International journal of molecular …, 2020 - mdpi.com
Genome editing holds the promise of one-off and potentially curative therapies for many
patients with genetic diseases. This is especially true for patients affected by …

Anti-amyloid treatment is broadly effective in neuronopathic mucopolysaccharidoses and synergizes with gene therapy in MPS-IIIA

M Giaccio, A Monaco, L Galiano, A Parente… - Molecular Therapy, 2024 - cell.com
Mucopolysaccharidoses (MPSs) are childhood diseases caused by inherited deficiencies in
glycosaminoglycan degradation. Most MPSs involve neurodegeneration, which to date is …

MPSI manifestations and treatment outcome: skeletal focus

G De Ponti, S Donsante, M Frigeni, A Pievani… - International Journal of …, 2022 - mdpi.com
Mucopolysaccharidosis type I (MPSI)(OMIM# 252800) is an autosomal recessive disorder
caused by pathogenic variants in the IDUA gene encoding for the lysosomal alpha-L …