Gene Therapy For Spinal Muscular Atrophy

  • Polina TerechovaBachelor of Science - BSc, Biomedicine, University of East Anglia

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Spinal Muscular Atrophy (SMA) is not just a medical term, it is a challenge that many families face every day. This genetic condition weakens muscles, gradually taking away the ability to perform everyday activities. It's not just a disease, it's a part of life for those affected and their loved ones.

For years, treating SMA was like trying to fill a bucket with a hole in it – it was possible to manage the symptoms, but the root cause remained unaddressed. Families and patients coped with limited options, focusing on comfort rather than cure. The invention of gene therapy thus became a game changer. In the case of SMA, gene therapy helps to introduce a healthy gene to do what the faulty one cannot – a step towards not just managing, but potentially overcoming the limitations of SMA.

This approach has opened the door to a world of hope. For many, gene therapy could mean stronger muscles and a better quality of life. But it's important to remember, it's not a one-size-fits-all solution. The success of gene therapy can vary, depending on many factors unique to each person.

As we dive into this article, we'll explore crucial questions about gene therapy for SMA. What can families realistically expect? Who can receive this treatment? How is it given, and can everyone access it? What support is available for those who embark on this journey?

This article will provide clear, straightforward answers to these questions and more. Our goal is to empower you with knowledge. By understanding more about gene therapy, you can make informed decisions, find support, and foster hope. So, let's begin this journey together to better understand what gene therapy means for those living with Spinal Muscular Atrophy.

What is the outcome of gene therapy for SMA?

The desired outcome of gene therapy for SMA is mainly to stabilise or improve patient’s conditions, including:

Gene therapy aims to halt or slow down this progression, stabilising the patient’s condition.

  • Improved muscle function and strength

Both improving motor function and slowing disease progression can significantly improve the overall quality of life for individuals with SMA. This includes increased independence and the ability to perform daily activities more easily.1

Gene therapy can potentially have long-lasting effects, providing lifelong benefits after a single treatment.

Can gene therapy cure SMA?

The word 'cure' implies a complete eradication of the disease, and in this sense, gene therapy is not a cure. However, at the current stage, gene therapy can provide significant improvements in symptoms and enhance the quality of life.1,2

The effectiveness and outcomes can vary based on individual factors such as the type of SMA, the age at which treatment is received, and the specific genetic mutations present. Ongoing research is focused on maximising these outcomes and understanding the long-term benefits and risks of gene therapy for SMA.3

How does gene therapy treat SMA?

To understand this, let's break it down. Our body functions based on instructions from our genes. In SMA, a crucial gene (SMN1) is missing or not working properly, like a crucial page missing from an instruction manual. Gene therapy works by delivering a healthy copy of this missing or defective gene, much like inserting the missing page back into the manual.4 This allows the body to start producing the proteins essential for muscle development that were previously missing.

What are the benefits and risks of gene therapy?

The benefits of gene therapy for SMA can be life-changing. It opens doors to increased motor functions and independence, a dream for many affected by SMA. However, as with any medical treatment, there are risks. These may include immune reactions, as the body sometimes sees the new gene as an invader.4 Also, because gene therapy is relatively new, we're still learning about its long-term effects.

Who is eligible for gene therapy?

Eligibility for gene therapy is like finding the right key for a lock. Not every key works for every lock, and similarly, not every SMA patient is a candidate for gene therapy. Several factors come into play, such as the type and stage of SMA, the patient's age, and their overall health.5 Think of it as a personalised approach, where doctors carefully evaluate if gene therapy is the right fit for the patient's specific condition.

How long does gene therapy last?

One of the most exciting aspects of gene therapy is its potential for lifelong effects. Imagine planting a seed that grows and continues to thrive for years; similarly, gene therapy is designed to have a long-term impact, possibly lasting a lifetime.3 However, it's important to note that gene therapy is a relatively new field, and we're still collecting data on its long-term efficacy. Ongoing research and follow-up studies are crucial in understanding the full lifespan of gene therapy's benefits.

Are there different types of gene therapy for SMA?

Yes, gene therapy isn't a one-size-fits-all solution. Different types of gene therapies target the SMA gene in unique ways.3,6 Some therapies might replace the missing gene, while others might modify existing genes to function better. The choice of therapy depends on various factors, including the type of SMA and specific patient needs. Think of it as different routes to reach the same destination; each route is chosen based on what’s best for the journey.

How is the therapy administered?

Administering gene therapy is a carefully orchestrated process, typically done in a clinical setting. It's usually given as a one-time intravenous infusion – like receiving a drip.7 This process involves a short hospital stay, allowing doctors to monitor the patient closely for any immediate reactions. The administration is designed to be as safe and efficient as possible, ensuring the therapy is delivered effectively to the patient's body.

Is the treatment accessible?

The accessibility of gene therapy for SMA is a bit like a new book release; it's not available everywhere at the same time and can be costly. The availability of this treatment varies by region and healthcare system. It's often expensive due to the cutting-edge technology involved, but there's a silver lining. Financial assistance, insurance coverage, and patient support programs might be available to help with the costs.

What support is available for patients and families?

Dealing with SMA is a journey that no one should have to walk alone. Thankfully, there's a wealth of support available. This includes patient advocacy groups, which provide resources, support, and advocacy for those affected by SMA. Counselling services offer emotional support, while online communities create spaces where families can share experiences and advice. These support systems can offer not just practical assistance but also a sense of shared understanding and community.

What happens during the recovery period post-therapy?

After receiving gene therapy, the recovery period can vary from person to person, much like how different people recover from a cold at different rates. Initially, this period involves close monitoring for any immediate reactions to the therapy. Then, regular check-ups are scheduled to assess the effectiveness of the treatment and to watch for any side effects. This period is crucial for ensuring the therapy is working as intended and for managing any health changes that may arise.

How to discuss gene therapy with healthcare providers?

Having a conversation with healthcare providers about gene therapy can feel daunting, like preparing for an important interview. It's vital to go in with a list of questions and concerns. Ask about the suitability of gene therapy for your specific case, the potential benefits, and risks, and what the long-term outcomes might be. Discuss the entire treatment process, from pre-therapy preparations to post-therapy care, and any lifestyle changes that might be needed. Remember, no question is too small when it comes to understanding your health or that of your loved one.

How can families prepare for gene therapy?

Preparing for gene therapy is like getting ready for a significant journey. It involves understanding the therapy thoroughly – what it entails, its potential impacts, and the necessary follow-up care. Organising logistics is crucial, such as arranging transportation to the treatment centre and planning for any required stay. Families should also ensure that all insurance and financial aspects are in order, exploring options for financial assistance if necessary. Preparing emotionally is equally important, perhaps by connecting with other families who have gone through similar experiences or seeking support from counselling services.

What is the current research and future outlook for SMA treatments?

The field of gene therapy is constantly evolving, like a fast-paced race towards a better future. Current research is focused on enhancing the efficacy and safety of these treatments.5 Scientists are exploring ways to make gene therapy more effective for a broader range of SMA patients and to minimise potential risks. The future looks promising, with developments potentially offering more personalised and effective treatments. This ongoing research not only helps improve SMA treatment but also broadens our understanding of gene therapies for other conditions.


Gene therapy ushers in a new era of medical treatment, offering hope and a potential path to better health for SMA patients. While not a cure, its approach to targeting SMA's genetic cause is a major advancement. This progress reflects medical science's evolution and the resilience of those battling SMA.

For families and patients navigating SMA, knowledge is power. Understanding gene therapy, its possibilities, and its limitations enables informed decisions and proactive participation in treatment. The support systems in place and the ongoing research offer a network of hope and assistance.

As innovation continues, the prospect of SMA becoming a less limiting factor in patients' lives grows. Together, with knowledge and determination, we strive to enhance the lives of those with SMA.


  1. Waldrop MA, Karingada C, Storey MA, Powers B, Iammarino MA, Miller NF, et al. Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes. Pediatrics [Internet]. 2020 [cited 2024 May 6]; 146(3):e20200729. Available from:
  2. Rao VK, Kapp D, Schroth M. Gene Therapy for Spinal Muscular Atrophy: An Emerging Treatment Option for a Devastating Disease. J Manag Care Spec Pharm [Internet]. 2018 [cited 2024 May 6]; 24(12-a Suppl):10.18553/jmcp.2018.24.12-a.s3. Available from:
  3. Gowda VL, Jungbluth H, Wraige E. Gene therapy for spinal muscular atrophy. Archives of Disease in Childhood - Education and Practice [Internet]. 2023 [cited 2024 May 6]; 108(5):347–50. Available from:
  4. Abreu NJ, Waldrop MA. Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy. Pediatric Pulmonology [Internet]. 2021 [cited 2024 May 6]; 56(4):710–20. Available from:
  5. Yang D, Ruan Y, Chen Y. Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta‐analysis. J Paediatrics Child Health [Internet]. 2023 [cited 2024 May 6]; 59(3):431–8. Available from:
  6. Jablonka S, Hennlein L, Sendtner M. Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders. Neurol Res Pract [Internet]. 2022 [cited 2024 May 6]; 4:2. Available from:
  7. Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, et al. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nat Med [Internet]. 2022 [cited 2024 May 6]; 28(7):1390–7. Available from:

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This content is purely informational and isn’t medical guidance. It shouldn’t replace professional medical counsel. Always consult your physician regarding treatment risks and benefits. See our editorial standards for more details.

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