Listen to Quick Takes from experts in the community on the following questions (Time: 25 min):
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What is the role of genetic testing in determining eligibility for a clinical trial?
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Case Study: Duchenne muscular dystrophy (DMD) – How does the location of the mutation impact whether they can participate in a trial?
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Case Study: Giant axonal neuropathy (GAN) – How does genetic testing impact the immune modulation for trial participants?
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Case Study: Angelman syndrome – How does the genotype change the risk profile of a potential treatment?
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There are many ways that genetic testing will impact eligibility for a clinical trial. Get a glimpse at what is discussed in the videos:
Genetic Testing
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Can help confirm diagnoses and identify specific genetic variants that may be required to determine whether a person can or cannot participate in certain therapies.
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Provides valuable information that helps us understand the progression of genetic conditions. This information is crucial for evaluating the effectiveness of new therapies.
Duchenne Muscular Dystrophy
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Research has shown that deletions affecting exons 8 through 11 in the DMD gene are particularly immunogenic, meaning they are more likely to trigger an immune response. As a result, current gene therapy trials or approved treatments often exclude patients with mutations in this region.
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Some trials also exclude patients with mutations in exons 1 through 17 to avoid potential immune complications. However, future trials might include immune-modulating drugs to prevent such responses, which could expand eligibility for gene therapy.
Giant Axonal Neuropathy
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Genetic testing is crucial in determining the risk of immune responses in patients undergoing gene therapy. Knowing the genetic variant helps us to estimate the likelihood of their immune system rejecting the newly introduced genetic material.
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People with certain genetic profiles may be at higher risk for developing a response that would need additional immune suppression protocols to mitigate this risk.
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Immune modulation strategies, including the use of medications, can be implemented based on genetic testing results to prevent the body from rejecting the therapeutic.
Angelman Syndrome
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The disorder can result from various genetic changes in the UBE3A gene that lead to the absence or dysfunction of the UBE3A protein.
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Antisense oligonucleotides (ASOs) are being explored to treat Angelman Syndrome by potentially un-silencing the paternal UBE3A copy. This could restore the production of the UBE3A protein in patients who cannot produce it due to a defective maternal copy.
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These therapies require careful consideration to avoid overexpression, which could lead to adverse effects.
Continuing the Journey
Check out some helpful information to guide you through the challenging journey from diagnosis to pursuing a gene therapy:
Get Connected
There are many patient advocacy organizations to follow or get involved with. They work hard to fund research and advocate for patient and family needs. They are also a wonderful way to connect with others affected by the disease if you are looking for support and advice.
Cure Duchenne
Muscular Dystrophy Association
Parent Project Muscular Dystrophy
Foundation for Peripheral Neuropathy
Neuropathy Action Foundation
Hannah’s Hope
Angelman Syndrome Foundation
Foundation for Angelman Syndrome Therapeutics (FAST)v
Rare Epilepsy Network
Call to Action
Share this information among your community to help ensure families are equipped with information on genetic testing and how it impacts their ability to participate in a clinical trial. All ASGCT Patient Education resources are free to use by sharing on social media, embedding the video, or simply linking to this page! Please credit the American Society of Gene and Cell Therapy or tag @ASGCTherapy.
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