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What are gene and cell therapies, and why are they key for rare disease innovation? In this blog, we explore these questions and more.
Gene therapy is a treatment that involves making changes in an individual's DNA to treat or cure a condition caused by inherited or spontaneously occurring genetic mutations.
Gene therapy can involve any of the following:
- Gene replacement: Where an unhealthy copy of a gene is removed and replaced with a healthy one
- Gene addition: In cases where a condition is caused by a missing gene, a healthy, functioning copy is introduced
- Gene inactivation: Where a gene is not functioning correctly and causing a condition, a therapy can be introduced to “turn off” the disease-causing gene.
Cell and gene therapy are similar but, rather than altering genetic material, cell therapy focuses on transferring whole cells into a person’s body to treat or prevent a condition. There are two types of cells used in this type of therapy:
- Autologous cells: Harvested, processed, and reintroduced into the same patient, which lowers the risk of immune rejection - commonly seen in treatments like stem cell transplants for blood disorders.
- Allogeneic cells: Sourced from a donor and are often available more quickly, though they carry a higher risk of immune rejection and complications like graft-versus-host disease (GVHD).
The transferred cells may serve different purposes: they can replace damaged or dysfunctional cells, boost the immune system, or promote tissue regeneration.
Some treatments involve both cell and gene therapies, too. For example, CAR-T cell therapy involves genetically modified cells being transferred into the patient.
Importance for rare disease
Gene and cell therapies hold significant promise in the rare disease space, as approximately 80% of these conditions are believed to have a genetic component, many of which are monogenic - caused by a single genetic change. This means that these types of therapy are highly applicable to rare diseases and have the potential to provide a viable treatment or cure where other more traditional approaches have failed.
Gene and cell therapies can offer a long-term solution for conditions, and some can even be administered as a one-off treatment. This means that patients would no longer have to undergo treatment throughout the whole of their lives, with the potential to significantly increase longevity, help slow disease progression, and improve quality of life.
From an innovation perspective, while gene and cell therapies have high upfront costs, they also have the potential to reduce lifetime care expenses and alleviate the burden on strained healthcare systems. For example, the Institute for Clinical and Economic Review (ICER) estimates that lifetime treatment costs for spinal muscular atrophy (SMA) patients range from $15 million to $100 million, which is three times the cost for those treated with onasemnogene abeparvovec (Zolgensma), a gene therapy that delivers a functional copy of the SMN1 gene.
Beyond reducing the lifetime cost of individual care, gene and cell therapies can significantly lower the overall disease burden, providing societal benefits like a healthier and more productive workforce. By effectively treating or curing debilitating conditions, these therapies enable individuals to participate more fully in work and community life while reducing the strain on healthcare systems through fewer hospitalizations and long-term care needs. They also offer hope and improved quality of life for families managing rare or chronic conditions, alleviating emotional and financial stress. Overall, these therapies have the potential to transform healthcare outcomes while driving economic and social progress.
To ensure the successful development and adoption of these treatments, it is critical to increase patient understanding of how these therapies work, their risks and benefits, and the costs behind their development. This will foster greater acceptance and support for these groundbreaking approaches to healthcare.
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