Evidence map›Paper›PMID 31248000›Full record

ReviewDiseases (Basel, Switzerland)2019

Cell and Gene Therapies for Mucopolysaccharidoses: Base Editing and Therapeutic Delivery to the CNS.

Chloe L Christensen, Rhea E Ashmead, Francis Y M Choy

Open access · goldAbstract readReview
In one paragraph

Review in Diseases (Basel, Switzerland), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.6field-weighted citation impact, top 33% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024
    Review
  3. Review
  4. Novel therapies for mucopolysaccharidosis type III.Journal of inherited metabolic disease · 2021
    Review
  5. Genome Editing for Mucopolysaccharidoses.International journal of molecular sciences · 2020
    Review
  6. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Chloe L ChristensenDepartment of Biology, Centre for Biomedical Research, University of Victoria, 3800 Finnerty Rd., Victoria, BC V8P 5C2, Canada.ORCID 0000-0002-3311-9513
Rhea E AshmeadDepartment of Biology, Centre for Biomedical Research, University of Victoria, 3800 Finnerty Rd., Victoria, BC V8P 5C2, Canada.
Francis Y M ChoyDepartment of Biology, Centre for Biomedical Research, University of Victoria, 3800 Finnerty Rd., Victoria, BC V8P 5C2, Canada. fchoy@uvic.ca.
University of Victoria · CA

Funding

Rare Disease Foundation 2326Sanfilippo Children's Research Foundation Operating grant
6 · The paper itself

Abstract

Although individually uncommon, rare diseases collectively account for a considerable proportion of disease impact worldwide. A group of rare genetic diseases called the mucopolysaccharidoses (MPSs) are characterized by accumulation of partially degraded glycosaminoglycans cellularly. MPS results in varied systemic symptoms and in some forms of the disease, neurodegeneration. Lack of treatment options for MPS with neurological involvement necessitates new avenues of therapeutic investigation. Cell and gene therapies provide putative alternatives and when coupled with genome editing technologies may provide long term or curative treatment. Clustered regularly interspaced short palindromic repeats (CRISPR)-based genome editing technology and, more recently, advances in genome editing research, have allowed for the addition of base editors to the repertoire of CRISPR-based editing tools. The latest versions of base editors are highly efficient on-targeting deoxyribonucleic acid (DNA) editors. Here, we describe a number of putative guide ribonucleic acid (RNA) designs for precision correction of known causative mutations for 10 of the MPSs. In this review, we discuss advances in base editing technologies and current techniques for delivery of cell and gene therapies to the site of global degeneration in patients with severe neurological forms of MPS, the central nervous system, including ultrasound-mediated blood-brain barrier disruption.

Indexed as

base editingblood-brain barriercentral nervous systemclustered regularly interspaced short palindromic repeatsgene therapieslysosomal diseasemolecular Trojan horsemucopolysaccharidosistherapeuticultrasound-mediated blood-brain barrier disruption

Identifiers

PMID31248000
PMCPMC6787741
OpenAlexW2954109914

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.