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Related Concept Videos

Gene Therapy00:59

Gene Therapy

25.9K
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...
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Microorganisms in Medicine and Therapeutics01:29

Microorganisms in Medicine and Therapeutics

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Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
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Author Spotlight: Addressing Regulatory Gaps in Molecular Studies by Quantifying Viral Vectors in Complex Matrices
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Gene therapy - are we ready now?

Radoslaw Kaczmarek1,2

  • 1Coagulation Products Safety Supply and Access Committee, World Federation of Hemophilia, Montreal, Quebec, Canada.

Haemophilia : the Official Journal of the World Federation of Hemophilia
|May 6, 2022
PubMed
Summary

Gene therapy offers a functional cure for haemophilia, but long-term safety and efficacy require further study. Understanding immune responses and vector integration is crucial for addressing challenges in adeno-associated viral (AAV) vector gene therapy.

Keywords:
AAVcuregene therapygenotoxicityhaemophilialiver toxicity

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Area of Science:

  • Hematology
  • Gene Therapy
  • Immunology

Background:

  • Haemophilia treatment has advanced significantly, with gene therapy showing promise for a functional cure by normalizing factor levels.
  • Adeno-associated viral (AAV) vector gene therapy clinical programs are nearing completion and regulatory approval.

Purpose of the Study:

  • To critically evaluate the efficacy and safety of AAV vector gene therapy for haemophilia.
  • To identify and address the challenges and unknowns associated with AAV vector gene therapy.

Main Methods:

  • Review of Phase 3 clinical studies and multiyear follow-up data from earlier investigations.
  • Analysis of safety profiles, including liver toxicities and immune responses.
  • Investigation into factor expression variability and potential for repeat dosing.

Main Results:

  • AAV gene therapy has shown long-term normalization of factor levels in some individuals.
  • Liver toxicities are observed in the first year across haemophilia A and B trials.
  • Significant variability in factor expression and unpredictable outcomes are noted, with immune responses precluding repeat dosing.

Conclusions:

  • Long-term safety monitoring is essential due to AAV vector integration into chromosomes.
  • Further research into host immune responses and cellular mechanisms is needed to overcome challenges.
  • Developing mitigants and solutions is key to expanding access to gene therapy for haemophilia.