ReviewJournal of inherited metabolic disease2024
Gene therapy for glycogen storage diseases.
Review in Journal of inherited metabolic disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 28 citations in OpenAlex.
- Bempedoic Acid Treatment in Four Adult Patients with Glycogen Storage Disease Type 1a: A Retrospective, Exploratory Case Series.Nutrients · 2026Article
- RNA sequencing resolves a novel noncanonical splice-region variant inTranslational pediatrics · 2026Article
- Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy.International journal of molecular sciences · 2026Review
- Glycogen and Glycosylation: Friends or Foes?Biomolecules · 2026Review
- Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials.Journal of neurology · 2026Article
- Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences · 2026Review
- Seeking stability for gene addition in inborn errors of metabolism.Molecular therapy. Nucleic acids · 2026Article
- Cardiovascular involvement in glycogen storage diseases.Nature reviews. Cardiology · 2026Review
- Article
- Growth impairment in glycogen storage disease type I versus types III/VI/IX: a cross-sectional study.BMC pediatrics · 2025Article
- Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.Scientific reports · 2025Article
- Recent developments in translational imaging of in vivo gene therapy outcomes.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- IMPC impact on preclinical mouse models.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.Biochemical genetics · 2025Article
- Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant ofFrontiers in genetics · 2025Article
- Precision medicine in action for Pompe disease.Molecular therapy. Nucleic acids · 2024Article
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis.Biomolecules · 2024Article
- Review
- [A case report of glycogen storage disease type 1a].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. This literature review summarizes the development of gene therapy for the GSDs. The abnormal accumulation of glycogen and deficiency of glucose production in GSDs lead to unique symptoms based upon the enzyme step and tissues involved, such as liver and kidney involvement associated with severe hypoglycemia during fasting and the risk of long-term complications including hepatic adenoma/carcinoma and end stage kidney disease in GSD Ia from glucose-6-phosphatase deficiency, and cardiac/skeletal/smooth muscle involvement associated with myopathy +/- cardiomyopathy and the risk for cardiorespiratory failure in Pompe disease. These symptoms are present to a variable degree in animal models for the GSDs, which have been utilized to evaluate new therapies including gene therapy and genome editing. Gene therapy for Pompe disease and GSD Ia has progressed to Phase I and Phase III clinical trials, respectively, and are evaluating the safety and bioactivity of adeno-associated virus vectors. Clinical research to understand the natural history and progression of the GSDs provides invaluable outcome measures that serve as endpoints to evaluate benefits in clinical trials. While promising, gene therapy and genome editing face challenges with regard to clinical implementation, including immune responses and toxicities that have been revealed during clinical trials of gene therapy that are underway. Gene therapy for the glycogen storage diseases is under development, addressing an unmet need for specific, stable therapy for these conditions.
Indexed as
Identifiers
What OpenQuestion holds
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.