Our mission to find a cure for mitochondrial disease will take time, but one of the surest signs that we're making progress is the number of clinical trials of new drugs and therapies for people with mitochondrial disease that we're seeing now.
When Lily was diagnosed in 2006, there was very little research being done into mitochondrial diseases and any clinical trial of a potential treatment seemed a very long way off. So it's really encouraging to see how much has changed in a relatively short time.
Our charity is currently funding 19 different scientific studies into mitochondrial diseases, several of which have the potential to go to clinical trials. And those are just the projects The Lily Foundation is funding; look at the bigger picture of mitochondrial research around the world and you'll see the same trend.
Leading the way in mitochondrial research
Our Lily-funded studies include some really exciting projects. Some are potential therapies for some of the most debilitating symptoms of mitochondrial disease, such as muscle weakness, epilepsy, hearing loss, balance problems and gut issues. Others focus on ways to restore damaged mitochondria or promote the natural production of healthy mitochondria in the body. This is the sort of pioneering, high-quality research that could eventually lead to a cure, or prevent the disease from progressing.
To find a cure for mitochondrial disease we need patients, clinicians, researchers and drug developers working together, and nowhere is that collaboration more important than with clinical trials. Patients and their families play an essential role in these studies, not only by agreeing to trial new drugs, but also by providing personal information about their condition and how it affects them. As new science leads to better diagnostics and higher detection rates for mitochondrial disease, the amount of patient data we have to draw on increases, which in turn feeds back into the research.
Our charity plays a vital role in this cycle. We make it easier for patients and their families to connect with researchers via online and in-person meet-ups, and keep people up to date with the latest information on the various clinical trials and studies that are available. We're working together with mitochondrial centres and the NHS to develop an online Patient Registry, where patients can volunteer their information and opt in to participate in any clinical trials relevant to their condition. This is a long way from where we were 15 years ago!
Giving mitochondrial disease patients a voice
Pharmaceutical companies are really starting to pay attention to mitochondrial diseases in a way that wasn't happening before. All the educating and awareness-raising we do is paying off; pharmaceutical firms are cottoning on to how central mitochondria are to human biology, and seeing that there's a real potential to accelerate research in this area.
Recently our CEO, Liz Curtis, was on a call with over 200 staff from a big American drug firm, telling them stories of some of the families we support in order to give them a better understanding of the terrible impact a mitochondrial disease diagnosis has on lives. Previously we were having to shout to be heard, but now these companies are the ones approaching us. People are listening and the message is getting through.
Choosing to take part in a clinical trial is a very personal choice, and not for everyone. It takes time and effort to participate, and can be emotionally demanding too. There might not be any clinical benefit for the person taking part, and realistically not every trial will lead directly to a treatment (although all help to advance research).
Those who do decide to take part have different reasons for doing so. Some want to learn more about their disease, or want early access to a drug that might benefit them. Others take comfort from the feeling that by taking part, they're helping bring hope to others in their situation in the future. We’ve lost count of the number of times a parent has told us, "I know a treatment will come too late for my child, but I want to help make a difference".
When you see the words 'clinical trial' or 'patient study', you don't see all the work that's been done to get a treatment to that stage. Before a drug or therapy can be clinically trialled, it has to go through a rigorous approval process. All the preliminary research must be published and peer-reviewed, and different methodologies tried and tested, perhaps on animal models or tissue samples. Every step is subject to approval by multiple regulatory bodies to ensure all safety and ethical standards are met. The entire process can take years, and involves countless hours of painstaking work.
I've met many of the scientists who have dedicated their lives to this work, and they’re all motivated by a real desire to help their patients. They'll turn up to our events on their days off and volunteer their own time to help families who are desperate for information or advice. They’re not just people in white coats, stuck in a lab; they get to know patients and their families over the course of their mito journeys, they see what they are going through and they want to help. When patients see this, it gives them hope and helps them feel less isolated.
Towards a better future for people with mito
When I look at the progress we've made, particularly with clinical trials, I’m confident we'll eventually find a treatment or a cure for mitochondrial diseases. And I'm not the only one. Read one of the interviews with mitochondrial disease experts such as Prof Antonella Spinazzola, Prof Grainne Gorman or Prof Ana Andreazza and you'll see the same optimism. There's still a lot of work to be done, but we're moving in the right direction.
I feel incredibly proud of our charity's role in this vital process, and all our amazing supporters and donors should feel proud too. We really are making a difference. The Lily Foundation has invested over £2.5 million into mitochondrial research. While still a drop in the ocean compared to the funding given to other areas of medicine, it's a hugely positive step.
What began as a few isolated grassroots campaigns to raise awareness about mitochondrial disease is now a global conversation, and it's gathering momentum year on year. Scientists, clinicians and drug companies are listening to patients and their families, and setting research priorities accordingly. The recent increase in clinical trials is the clearest evidence of this advance. Compare it to where we were a decade or two ago, and there's every reason to be hopeful.