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.
🔍 There are 12 defined clotting factors, with Hemophilia A and B caused by deficiencies in clotting factors 8 and 9, respectively.
💉 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.
💊 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.
🧪 Gene therapy trials are currently focused on adults with hemophilia to ensure the therapy's benefits do not diminish with age.
🔎 Researchers are optimistically monitoring the progress of gene therapies in clinical trials for their safety and efficacy.
📚 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.

Outlines

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🩸 Hemophilia: A Genetic Clotting Disorder

Hemophilia is a rare genetic disorder that affects the blood's ability to clot, leading to prolonged bleeding, spontaneous bruises, and internal bleeding that can be dangerous or even life-threatening, particularly when it affects organs. The disorder arises from defective genes responsible for producing clotting factors, with hemophilia A and B being the most common types, each caused by a deficiency in specific clotting factors. The traditional treatment involves lifelong clotting factor replacement therapy administered through infusions.

🧬 Gene Therapy: A Potential Cure for Hemophilia

Gene therapy presents a one-time treatment option for hemophilia by delivering a functional version of the missing or defective gene into cells to produce the necessary clotting factors. This is achieved using a vector, often a modified virus, engineered to deliver therapeutic genes without any viral genes. The liver plays a crucial role in this process, as it is responsible for creating clotting factors, and the vector is targeted to liver cells to enable the production and secretion of active clotting factors into the bloodstream. Gene therapy trials are currently focusing on adults to ensure the treatment's effectiveness as the liver grows with age.

🔬 Ongoing Clinical Trials and Standard Care

Clinical trials for gene therapy in hemophilia are ongoing, with researchers optimistically monitoring their progress. These trials aim to safely and effectively prevent bleeding episodes by compensating for the clotting factor deficiency. It is important to note that if bleeding occurs during or after gene therapy, standard care treatments can still be applied. Individuals with hemophilia should consult with a hematologist or a hemophilia treatment center to discuss gene therapy options and to access more information and resources about this emerging treatment.

Mindmap

Keywords

💡Hemophilia

Hemophilia is a rare genetic disorder characterized by the inability of blood to clot properly. This leads to prolonged bleeding, which can be spontaneous or induced by injury, dental work, or surgery. In the video, hemophilia is the central theme, highlighting its effects on individuals and the potential of gene therapy as a treatment.

💡Clotting Factors

Clotting factors are proteins in the blood that play a crucial role in the coagulation process, helping the body to stop bleeding. There are 12 defined clotting factors, and deficiencies in specific ones, such as factor 8 or 9, cause different types of hemophilia. The script explains how hemophilia A and B are related to deficiencies in these factors.

💡Gene Therapy

Gene therapy is a cutting-edge medical approach that involves introducing a functional version of a missing or defective gene into a patient's cells. In the context of hemophilia, the script describes how gene therapy could deliver a functional clotting factor gene into liver cells, potentially offering a one-time treatment to replace lifelong infusions.

💡Vector

A vector, often derived from viruses but with all viral genes removed, is used in gene therapy to deliver therapeutic genes into cells. The script mentions that for treating hemophilia A and B, the vector would be engineered to target liver cells, illustrating the precision required in gene delivery.

💡Liver

The liver is an organ responsible for creating various elements in the blood, including clotting factors. In the video, Dr. Denise Sabbatino explains the liver's role in producing clotting factors, which is significant for gene therapy as the liver can produce and secrete active clotting factors into the blood after gene therapy.

💡Clotting Factor Replacement Therapy

Clotting factor replacement therapy is the current standard treatment for hemophilia, where clotting factors are administered into the bloodstream through infusions. The script mentions that these treatments are required throughout a person's life to manage or prevent bleeding episodes.

💡Genetic Disorder

A genetic disorder is a health condition caused by abnormalities in an individual's DNA. Hemophilia, as described in the script, is a genetic disorder that prevents blood from clotting properly due to defects in genes responsible for clotting factor production.

💡Internal Bleeding

Internal bleeding refers to bleeding that occurs within the body, such as within joints, muscles, or organs. The script highlights the dangers of internal bleeding in hemophiliacs, which can be life-threatening and lead to permanent disability.

💡Hemophilia A and B

Hemophilia A and B are two types of hemophilia distinguished by the specific clotting factor that is deficient. Hemophilia A is caused by a mutation affecting clotting factor 8, while hemophilia B is due to a deficiency in clotting factor 9. The script explains how gene therapy targets these specific deficiencies.

💡Clinical Trials

Clinical trials are research studies that aim to determine the safety and effectiveness of new medical interventions, such as gene therapy. The script mentions that gene therapy for hemophilia is currently in clinical trials, with eligible adults being monitored for the therapy's effectiveness.

💡Hematologist

A hematologist is a medical specialist who diagnoses and treats blood disorders, including hemophilia. The script advises individuals with hemophilia to discuss gene therapy options with their hematologist or at a hemophilia treatment center, emphasizing the importance of professional medical guidance.

Highlights

Hemophilia is a rare genetic disorder affecting blood clotting.

Prolonged bleeding can occur spontaneously or due to injury, dental work, or surgery.

Internal bleeding can be dangerous, leading to joint and muscle damage or organ damage.

Hemophilia A is caused by a mutation affecting clotting factor 8, while Hemophilia B is due to clotting factor 9 deficiency.

There are 12 defined clotting factors in the blood.

Existing treatments involve lifelong clotting factor replacement therapy.

Gene therapy could offer a one-time treatment for hemophilia.

Gene therapy involves delivering a functional gene into cells using a vector derived from viruses.

The liver plays a crucial role in creating clotting factors and is targeted for gene therapy.

Gene therapy trials are being conducted in eligible adults to avoid effects weakening as the liver grows.

The liver's growth from childhood to adulthood is considered in gene therapy trials.

Researchers are optimistically monitoring the progress of gene therapies in clinical trials.

Gene therapy aims to safely and effectively prevent bleeds by compensating for the clotting factor deficiency.

Standard of care treatments can still be used if bleeding occurs during or after gene therapy.

Individuals with hemophilia should discuss gene therapy options with a hematologist or treatment center.

More information about gene therapy for hemophilia can be found at ASGCT.org.