Parent and child looking confident about learning more about gene therapy

Gene-therapy treatment journey

Understand the gene-therapy experience

The gene-therapy treatment journey is complex and will vary based on each individual’s
disease and the particular gene-therapy treatment they may receive. With several gene
therapies already approved, and more currently under investigation, you may find yourself
having more gene-therapy discussions with your patients.1,2

Parent and child looking confident about learning more about gene therapy

Gene-therapy treatment journey

Understand the gene-therapy experience

The gene-therapy treatment journey is complex and will vary based on each individual’s
disease and the particular gene-therapy treatment they may receive. With several gene
therapies already approved, and more currently under investigation, you may find yourself
having more gene-therapy discussions with your patients.1,2

Doctor icon representing potential conversations with patients

As patients begin to learn about gene therapy, they may have practical questions about the treatment itself. Some patients may also feel uncertain about how gene therapy may affect their financial, home, and career commitments. There may also be an emotional impact as patients contemplate the implications of undergoing gene therapy. This page is designed to give you a high-level overview of some of the steps that may be involved. Each patient and therapy are different and there may be additional or different steps for certain therapies.

Speech bubble icons representing the consultation period of the treatment journey

Consultation period

Prior to initiation of gene therapy, discussions with a multidisciplinary team may help your patients to understand their disease and treatment options so they can make informed decisions. Exploratory consultations with genetic counselors, a transplant team, and/or other specialists may be involved.

    Patient considerations

    During this consultation period, patients will be receiving a large amount of new information and meeting multiple new healthcare professionals. Making time for appointments and travel can be challenging—especially when navigating the cost of travel, work or school commitments, and caring responsibilities. As they educate themselves about gene therapy and start to understand what may be involved and how they feel about the idea, patients may need time to digest the information they are receiving. Patients may also seek out the support of their healthcare professionals, family, friends, and/or support groups.

    Test tube icon for the pretreatment-preparation portion of the treatment journey

    Pretreatment preparation

    For ex-vivo gene therapies, cell collection may be required to gather cells for use in the manufacturing process.3,4 These therapies are manufactured by genetically modifying a patient’s own cells outside of the body to create an individualized therapy.5 In-vivo therapies are typically manufactured in advance and need only to be shipped to the site of care.6

      Patient considerations

      Cell collection may require travel and a short stay at or near the site of care.7 As they wait for their therapy to be ready and treatment to begin, patients can prepare themselves for the next steps in the treatment journey by making practical plans for their treatment. This may include arranging time off work or school, securing help to care for pets and dependents, and reaching out to their insurance to determine what may be covered under their benefits.8

      Hospital icon representing the treatment-conditioning portion of the treatment journey

      Treatment conditioning

      For some therapies, pretreatment conditioning may be required.8 Conditioning regimens may use chemotherapy or immunosuppressant drugs.2 The goals of conditioning may include depleting the patients’ cells to allow for engraftment of new cells and/or to mitigate immune responses to gene therapy.2,9 Either a myeloablative or a reduced-intensity conditioning regimen may be used,8 depending on the patients’ age and health status, their disease state, and the specific gene therapy. Gene therapies that involve conditioning may require a stay in or near a specialized treatment or transplant center.8

        Patient considerations

        Conditioning regimens have risks,8 and comprehensive education during the consultation period will help ensure that patients know what to expect from this phase of treatment and are able to make an informed decision about whether or not to proceed with gene therapy. Many drugs used in conditioning regimens can cause side effects, including infections, infertility, hair loss, nausea and vomiting, diarrhea, mouth sores, or dry mouth.8 Supportive treatments may be available to help manage some, but not all, of these side effects.8 For patients who need to isolate in the hospital away from family and friends, making a plan to check in with family and friends by phone, text, or video chat can be reassuring. Healthcare professionals at specialized gene-therapy sites and transplant centers will be available before, during, and after conditioning to offer ongoing advice and support.8

        DNA icon representing the gene-therapy procedure

        The gene-therapy procedure

        Gene therapy is typically administered as a one-time treatment.10 Depending upon the particular gene therapy, it may be administered intravenously or injected directly into a tumor or affected organ.11 For some ex-vivo therapies that involve conditioning, an inpatient isolation period may be required as the patient is at risk for infections until the new, modified cells engraft.8

          Patient considerations

          The multidisciplinary care team will help patients understand what to expect during and after the procedure. Patients undergoing ex-vivo gene therapies that require conditioning will need continuing support from their care team.8

          Checklist icon representing the posttreatment steps

          After treatment

          In the months and years after gene therapy, patients will need to follow up with their care team to assess their response to treatment and to be monitored for side effects.12 To help the medical community get a better long-term picture of the safety and efficacy of gene therapy, patients may be enrolled in a gene-therapy patient registry.13

            Patient considerations

            As they recover, your patients may come to you for guidance on how to manage their disease and health as they move forward. This may be a time of adjustment for patients and they may seek to share (in-person or online) their experiences and the knowledge they have gained with other people who are undertaking a gene-therapy journey of their own.

            Patient resources

            You can find helpful resources for patients who are interested in learning more about gene therapy at GenePossibilities.com.

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            References:  1. Approved cellular and gene therapy products. US Food and Drug Administration website. Updated June 23, 2022. Accessed August 4, 2022. https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/approved-cellular-and-gene-therapy-products.  2. Ferrari G, Thrasher AJ, Aiuti A. Gene therapy using haematopoietic stem and progenitor cells. Nat Rev Genet. 2021;22(4):216-234. doi:10.1038/s41576-020-00298-5.  3. Leonard A, Sharma A, Uchida N, et al. Disease severity impacts plerixafor-mobilized stem cell collection in patients with sickle cell disease. Blood Adv. 2021;5(9):2403-2411. doi:10.1182/bloodadvances.2021004232.  4. Yannaki E, Karponi G, Zervou F, et al. Hematopoietic stem cell mobilization for gene therapy: superior mobilization by the combination of granulocyte–colony stimulating factor plus plerixafor in patients with β-thalassemia major. Hum Gene Ther. 2013;24(10):852-860. doi:10.1089/hum.2013.163.  5. Soofiyani SR, Baradaran B, Lotfipour F, Kazemi T, Mohammadnejad L. Gene therapy, early promises, subsequent problems, and recent breakthroughs. Adv Pharm Bull. 2013;3(2):249-255. doi:10.5681/apb.2013.041. 6. Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, et al. Current clinical applications of in vivo gene therapy with AAVs. Mol Ther. 2021;29(2):464-488. doi:10.1016/j.ymthe.2020.12.007.  7. Donating stem cells and bone marrow. American Cancer Society website. Revised August 4, 2020. Accessed August 4, 2022. https://www.cancer.org/treatment/treatments-and-side-effects/treatment-types/stem-cell-transplant/donors.html. 8. Genetic therapy conditioning: patient guide. Cure Sickle Cell website. Accessed August 4, 2022. https://curesickle.org/system/files/CSC_Conditioning_Patient_Bi_FOLD_FactSheet_042321_Digital_CenterSpread.pdf. 9. Colella P, Ronzitti G, Mingozzi F. Emerging issues in AAV-mediated in vivo gene therapy. Mol Ther Methods Clin Dev. 2018;8:87-104. doi:10.1016/j.omtm.2017.11.007.  10. Goswami R, Subramanian G, Silayeva L, et al. Gene therapy leaves a vicious cycle. Front Oncol. 2019;9:297. doi:10.3389/fonc.2019.00297.  11. Sinclair A, Islam S, Jones S. Gene therapy: an overview of approved and pipeline technologies. In: CADTH Issues in Emerging Health Technologies. Canadian Agency for Drugs and Technologies in Health; 2016-. Published March 1, 2018. Accessed August 4, 2022. https://www.ncbi.nlm.nih.gov/books/NBK538378.  12. US Department of Health and Human Services, Food and Drug Administration, and Center for Biologics Evaluation and Research. Long term follow-up after administration of human gene therapy products. Published January 2020. Accessed August 4, 2022. https://www.fda.gov/media/113768/download.  13. National Academies of Sciences, Engineering, and Medicine. Exploring novel clinical trial designs for gene-based therapies: proceedings of a workshop. Published 2020. Accessed August 4, 2022. doi:10.17226/25712.