Hemophilia and Gene Therapy

ASGCT
11 Nov 201903:08

Summary

TLDRHemophilia is a genetic disorder affecting blood clotting, leading to prolonged bleeding and potential internal damage. It is caused by defective genes responsible for clotting factors, with Hemophilia A and B linked to deficiencies in factors 8 and 9, respectively. Current treatments involve lifelong clotting factor replacement therapy. Gene therapy offers a potential one-time treatment, where a functional gene is delivered to liver cells to produce the missing clotting factor. Clinical trials are ongoing, with a focus on adult patients to ensure long-term efficacy.

Takeaways

  • 🩸 Hemophilia is a rare genetic disorder affecting the blood's ability to clot, leading to prolonged bleeding.
  • 🧬 It occurs due to defects in genes responsible for producing clotting factors, which are proteins essential for stopping bleeding.
  • πŸ” There are 12 defined clotting factors, with Hemophilia A and B caused by deficiencies in clotting factors 8 and 9, respectively.
  • πŸ’‰ The most common treatment is clotting factor replacement therapy, administered through infusions for the patient's entire life.
  • 🧬 Gene therapy is an emerging treatment that delivers a functional version of the defective gene into cells to produce the missing clotting factor.
  • 🌐 A vector, often derived from viruses but modified to carry therapeutic genes, is used to deliver the functional gene into the cells.
  • πŸ’Š For treating Hemophilia A and B, the vector targets liver cells, which are responsible for producing clotting factors E and 9.
  • 🌱 The liver's role is crucial as it grows with the individual, maintaining the effectiveness of the therapy as it matures.
  • πŸ§ͺ Gene therapy trials are currently focused on adults with hemophilia to ensure the therapy's benefits do not diminish with age.
  • πŸ”Ž Researchers are optimistically monitoring the progress of gene therapies in clinical trials for their safety and efficacy.
  • πŸ“š Individuals with hemophilia should consult with a hematologist or a hemophilia treatment center for information on gene therapy options.

Q & A

  • What is hemophilia?

    -Hemophilia is a rare genetic disorder that prevents blood from clotting properly, leading to prolonged external bleeding and potentially dangerous internal bleeding.

  • What are the consequences of internal bleeding in hemophilia?

    -Internal bleeding in hemophilia can be incredibly dangerous, causing deep bleeding inside joints and muscles, which can lead to permanent disability or be life-threatening, especially when organs are damaged.

  • How many clotting factors are there in the blood?

    -There are 12 defined clotting factors in the blood that help the body to stop bleeding.

  • What is the difference between hemophilia A and hemophilia B?

    -Hemophilia A is caused by a mutation in the gene that creates a deficient amount of clotting factor 8, while hemophilia B is caused by a deficiency in clotting factor 9.

  • What is the most common treatment for hemophilia?

    -The most common treatment for hemophilia is clotting factor replacement therapy, which involves administering the clotting factor into the bloodstream through an infusion.

  • What is gene therapy and how could it treat hemophilia?

    -Gene therapy is a one-time treatment that delivers a functional version of the missing or defective gene into a cell to produce the missing clotting factor. It uses a vector, often derived from viruses, to deliver the functional genes into the cells.

  • Why is the liver an important organ in treating hemophilia with gene therapy?

    -The liver is important because it is responsible for creating a variety of elements in the blood, including clotting factors. By introducing a vector containing the functional gene to liver cells, the liver can produce and secrete functionally active clotting factors back into the blood.

  • Why are gene therapy trials being conducted in adults with hemophilia?

    -Gene therapy trials are conducted in adults to avoid the beneficial effects of the therapy from becoming weaker or wearing off as a child's liver grows with age.

  • Can standard of care treatments still be used if bleeding occurs during or after gene therapy?

    -Yes, if bleeding occurs during or after gene therapy, the use of any standard of care treatment can still be used.

  • What should an individual with hemophilia do to learn more about gene therapy options?

    -An individual with hemophilia should carefully discuss gene therapy options with their hematologist or hemophilia treatment center and visit resources like ASGCT.org for more information.

  • How does gene therapy work in the context of hemophilia treatment?

    -Gene therapy for hemophilia works by targeting the liver cells via infusion with a vector containing the functional gene. This allows the liver to produce the necessary clotting factors to prevent bleeding.

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Related Tags
HemophiliaGenetic DisorderClotting FactorsGene TherapyBlood ClottingMedical TreatmentInfusion TherapyLiver RoleClinical TrialsHealthcare InnovationLifesaving Therapy