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Related Concept Videos

Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Parkinson's Disease: Treatment01:24

Parkinson's Disease: Treatment

Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
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Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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iPS Cell Differentiation

The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.

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Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.

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Related Experiment Video

Updated: Jun 2, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Pompe disease gene therapy.

Barry J Byrne1, Darin J Falk, Christina A Pacak

  • 1Department of Pediatrics, University of Florida, 1600 SW Archer Road, Gainesville, FL 32610, USA. bbyrne@ufl.edu

Human Molecular Genetics
|April 27, 2011
PubMed
Summary
This summary is machine-generated.

Pompe disease, a metabolic myopathy, involves glycogen buildup due to enzyme deficiency. Gene therapy shows promise for treating Pompe disease manifestations not improved by enzyme replacement therapy (ERT).

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Pompe disease is an autosomal recessive metabolic myopathy caused by acid alpha-glucosidase deficiency, leading to glycogen accumulation.
  • It presents a spectrum from severe early-onset cardiorespiratory failure to milder late-onset progressive weakness.
  • Enzyme replacement therapy (ERT) has improved outcomes, but some patients still face chronic disability.

Purpose of the Study:

  • To review preclinical studies supporting gene therapy for Pompe disease.
  • To explore gene therapy strategies for Pompe disease manifestations unresponsive to ERT.
  • To provide rationale for the first clinical trial of adeno-associated virus-mediated gene therapy.

Main Methods:

  • Review of preclinical research on gene therapy for Pompe disease.
  • Focus on studies relevant to recombinant adeno-associated virus (AAV)-mediated gene transfer.
  • Analysis of laboratory data supporting clinical trial development.

Main Results:

  • Preclinical studies have laid the groundwork for gene therapy in Pompe disease.
  • Gene therapy strategies are being developed to address ERT-resistant symptoms.
  • A clinical trial using AAV-mediated gene therapy has been initiated.

Conclusions:

  • Gene therapy offers a potential new treatment avenue for Pompe disease.
  • Addressing respiratory failure in early-onset Pompe disease is a key focus for gene therapy.
  • Further research and clinical trials are essential to optimize gene therapy outcomes.