Innovative Rare Therapies Transform Children's Lives

MHRA Foreword

I had the great pleasure of meeting Chris Kessler recently and I am so grateful to him for his bravery and eloquence in sharing his son Charlie's story. This is a story of breakthrough medical advances giving the hope of a happy and healthy life to children like Charlie, when in previous generations they would have had few if any successful treatment options. It highlights the crucial role that we can play as regulators to ensure that the latest treatment options for rare diseases are available to patients in this country and beyond. It is for those patients, and their families in the case of children such as Charlie, to choose what is right for them, but they can only have those choices available to them with good regulation that prioritises treatments for rare diseases. We must always ask ourselves, as regulators, how we can best serve the needs of patients, so that they have hope for their future.

Lawrence Tallon, Chief Executive of the Medicines and Healthcare products Regulatory Agency (MHRA)

Guest blog: Chris Kessler

In August of 2024, my wife and I welcomed our second child - a healthy, happy boy named Charlie. It had been an uneventful pregnancy and a normal delivery and we quickly settled back into the busy routine of newborn parents.

At 7-weeks-old, my wife noticed that Charlie's development was abnormal. Where he once had typical movement and breathing, he had become weak and was noticeably working harder than usual to breathe. We took him to the A&E at Kingston Hospital, who quite quickly identified that something was significantly wrong. We were ultimately transferred to Evelina Children's Hospital where Charlie was diagnosed with a rare, genetic neuromuscular condition called Spinal Muscular Atrophy Type 1 (SMA).

SMA is a progressive muscle wasting condition that affects not only movement, but also respiratory function, swallowing, and more. Without treatment, most SMA Type 1 children are unable to survive without permanent ventilation past the age of 2. SMA occurs most commonly when a child inherits two altered versions of the SMN1 gene which is instrumental in the creation of SMN protein that keeps our neurons healthy and functioning.

As my wife and I wrestled with the challenging reality of our situation, we found hope and strength in the recent treatment advances for Charlie's condition. In only the last five years, three separate treatments have become available on the NHS, one of which is a single-dose gene therapy. While not a cure, some children who receive gene therapy pre-symptomatically are developing normally to their peers. As Charlie had already developed severe symptoms, his prognosis was noticeably different, but our neuromuscular team gave us a solid understanding of this and any related challenges.

Over the next two months in hospital, we were educated on these treatments and their various considerations. Shortly after the confirmed diagnosis, Charlie started on a daily, oral treatment that targets the 'backup' SMN2 gene. He made great progress on this treatment, gaining significant amounts of movement and retaining strong swallowing skills. We had decided quite early on that gene therapy was our preferred treatment option and ultimately Charlie received that in December of 2024 and we came home shortly thereafter.

From a parents' perspective, navigating the medical system, while undergoing the most traumatic and stressful event of our life, was not without challenges. I am far from an expert on the topic and my opinions can only be formed by my personal experience, but I believe regulators can play an important role in impacting the patient experience. They can do this by improving access to treatments, ensuring risks are appropriately managed, and communicating clearly with relevant patient populations.

For rare conditions like SMA, access to treatment remains a difficult topic. All three approved treatments are expensive and sample sizes for their usage are limited naturally by the size of the population, as estimates point to roughly 30 babies a year in the UK born with SMA Type 1.

As well, these treatments are not without risk and we were explained quite directly of those risks for gene therapy specifically. As the treatment has the potential to affect the recipient's liver, it requires a long-term dose of steroids which bring their own challenges and considerations. Charlie ultimately required multiple months of steroids, twice weekly blood tests, and a final check on his adrenal system before he was able to come off steroids. For my son, our choice to have him receive gene therapy was a balance between these risks and the potential of the treatment. We ultimately were comfortable with that balance, but it is a very personal choice and it's important that the relevant medical professionals and regulators support families with easily digestible content, open lines of communication, and a collaborative approach.

There is a developing pipeline of drugs and it's important to the SMA community that whatever follow-on treatments are identified, are available quickly in this country. Now that children with SMA Type 1 are advancing into childhood, there's great need for more treatments to support their development throughout life. The SMA community very closely watches the development of these drugs and I hope that as more breakthroughs are made the UK will lead the way globally by ensuring access to new treatments. On this note, I was heartened to read the recent MHRA paper which lays out a new vision for rare disease therapies. These reforms will speed up the time from discovery to delivery and these changes directly give families like mine hope for a brighter future.

Charlie continues to progress in his development. He is now able to sit independently, his feeding remains strong, and he only requires limited ventilation overnight. He is a bright, exceptionally happy, curious boy and a true testament to the potential of these treatments. He attends a mainstream nursery where he's social and developing intellectually like his peers. My wife and I are constantly amazed by him and the cheery disposition in which he goes through life after all he has been through.

I am eternally grateful to the entirety of the NHS and the surrounding medical system, the doctors, nurses, and staff at Kingston Hospital and Evelina Children's Hospital, SMA UK and other relevant patient advocacy groups, and friends & family from across the globe who supported us.