She explains how these conditions affect people, the challenges for research, and says that early diagnosis is essential.
What are lysosomal disorders?
Lysosomal disorders are a group of about 40-50 rare conditions. The underlying cause is the same for all of them – the lack of an enzyme.
I often explain it like this – every cell in the body is like a house with a recycling unit and the enzyme breaks down the materials that need to be recycled. Without the enzyme the waste materials just build up and cause havoc.
This can happen in the heart or brain or wherever the accumulated materials are important. The symptoms people experience depend on their type of disorder, but without treatment there can be permanent damage.
There is a treatment available for some of these conditions which is funded through NHS England and in the UK we are very well set up for this. The enzyme can be replaced with regular injections every 1 or 2 weeks – but this is lifelong and not a cure, and can be inconvenient for patients.
The research challenge
New oral therapies can reduce the burden of treatment for patients. Gene therapies are also being developed, which one day could involve a one-off injection of a virus with the correct gene creating the enzyme which potentially could replace the enzyme for ever.
But we’re still some way off that and because this condition is rare, doing the research is more challenging and it’s behind other conditions which are more common.
We have to work with international colleagues as the conditions are rare and centres few. Sometimes patients even have to move house with their families for months at a time to participate in clinical trials.
Pre-clinical collaborative research also has to be done internationally. I’m chair of a European Working Group for a condition known as Gaucher Disease which aims to bring people together for this type of research
The diagnosis challenge
But for any treatment to be optimally effective, the condition has to be diagnosed early - the biggest barrier is late diagnosis. Awareness is growing, but we’re not there yet and some people can be seen by various doctors for ten years or more before being given a diagnosis.
Because these conditions are rare, doctors might only see one or two patients in this country. If physicians are not aware of lysosomal disorders, they won’t think of them and can’t make a diagnosis. So we need to raise awareness.
Early identification is important, as the earlier diagnosis happens, the earlier treatments can start which improve quality of life. For example, you can see people at 40 who start to have heart palpitations and an enlarged heart. It might take until they are 50 for them to find their way to a treatment centre by which time irreversible damage may have occurred and treatment may be limited. Outcomes would be better if patients received a diagnosis and treatment closer to the start of their symptoms.
What’s your hope for the future?
My aspiration would be to see therapies for patients that would not just treat them, but also restore them to a good quality of health and life – whether that’s a gene therapy or anything else. That is what I would want to see.
