ReviewActa paediatrica (Oslo, Norway : 1992)2008
CNS-directed gene therapy for lysosomal storage diseases.
Review in Acta paediatrica (Oslo, Norway : 1992), 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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.
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.
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Who cites it
34 citing papers in PubMed, 69 citations in OpenAlex.
- Extracellular Vesicles as Tools for Crossing the Blood-Brain Barrier to Treat Lysosomal Storage Diseases.Life (Basel, Switzerland) · 2025Review
- Fucosidosis: A Review of a Rare Disease.International journal of molecular sciences · 2025Review
- Neurological manifestations of lysosomal storage diseases.Annals of medicine and surgery (2012) · 2024Review
- Hematopoietic Stem Cell Transplantation for Storage Disorders: Present Status.Indian journal of pediatrics · 2024Review
- Engineering antibody and protein therapeutics to cross the blood-brain barrier.Antibody therapeutics · 2022Review
- Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1.ACS omega · 2021Article
- Autophagy in the Central Nervous System and Effects of Chloroquine in Mucopolysaccharidosis Type II Mice.International journal of molecular sciences · 2019Article
- Possible strategies to cross the blood-brain barrier.Italian journal of pediatrics · 2018Review
- Characterization of the endolysosomal system in human chordoma cell lines: is there a role of lysosomes in chemoresistance of this rare bone tumor?Histochemistry and cell biology · 2018Article
- Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.Orphanet journal of rare diseases · 2018Article
- Serum global metabolomics profiling reveals profound metabolic impairments in patients with MPS IIIA and MPS IIIB.Metabolic brain disease · 2017Article
- Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives.Advanced drug delivery reviews · 2017Review
- Bio-Plex immunoassay measuring the quantity of lysosomalBMJ open · 2017Article
- Induced pluripotent stem cell models of lysosomal storage disorders.Disease models & mechanisms · 2017Review
- Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy.Stem cells translational medicine · 2017Article
- Combination Therapies for Lysosomal Storage Diseases: A Complex Answer to a Simple Problem.Pediatric endocrinology reviews : PER · 2016Review
- Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders.PloS one · 2016Article
- A GLP-Compliant Toxicology and Biodistribution Study: Systemic Delivery of an rAAV9 Vector for the Treatment of Mucopolysaccharidosis IIIB.Human gene therapy. Clinical development · 2015Article
- Lentivector integration sites in ependymal cells from a model of metachromatic leukodystrophy: non-B DNA as a new factor influencing integration.Molecular therapy. Nucleic acids · 2014Article
- Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: toxicology, biodistribution, and immunological assessments in primates.Human gene therapy. Clinical development · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
unlabelledLysosomal storage diseases (LSDs) are a group of inherited metabolic disorders usually caused by deficient activity of a single lysosomal enzyme. As most lysosomal enzymes are ubiquitously expressed, a deficiency in a single enzyme can affect multiple organ systems, including the central nervous system (CNS). At least 75% of all LSDs have a significant CNS component. Approaches such as bone marrow transplantation (BMT) or enzyme replacement therapy (ERT) can effectively treat the systemic disease associated with LSDs in some patients. However, CNS disease remains a major challenge. Gene therapy represents a promising approach for the treatment of CNS disease as it has the potential to provide a permanent source of the deficient enzyme. Direct intracranial injection of viral gene transfer vectors has resulted in reduced lysosomal storage and functional improvement in certain small (rodent) and large (canine and feline) animal models of LSDs. The addition of protein transduction domains (PTDs) to the recombinant enzymes increased the distribution of enzyme and the extent of correction. Therapeutic levels of lysosomal enzymes can also be delivered to distant sites in the brain by anterograde and retrograde axonal transport. Finally, combining disparate approaches such as BMT and CNS-directed gene therapy can increase treatment efficacy in LSDs with severe CNS disease that are refractory to more conventional approaches.
conclusionThe development of gene transfer vectors that mediate persistent expression in vivo, the addition of PTDs, a better understanding of lysosomal enzyme trafficking and combining different therapies provide hope that the CNS component of LSDs can be effectively treated.
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Registered trials
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.