A Sense of Urgency in Sanfilippo Therapy Development

With no real standard-of-care for Sanfilippo syndrome patients, Brian Bigger, Ph.D., discusses the sense of urgency he and his colleagues feel while researching.

With no real standard-of-care, it's easy to feel a sense of urgency in the clinic when trying to develop therapies for mucopolysaccharidosis III (MPS III; Sanfilippo syndrome).

At the 14th Annual WORLDSymposium, Rare Disease Report sat down with Brian Bigger, Ph.D, Professor of Gene and Cell Therapy at the University of Manchester. There, he spoke about the unmet need for therapies in the lysosomal storage disease space, the sense of urgency felt by him and his colleagues, and the connection between his team and the patient population.

Bigger: For Sanfilippo Disease, the standard-of-care is essentially nothing; there is no standard of care. It’s essentially palliative relief of symptomology. So, trouble with sleep might be treated with melatonin or with various antipsychotic drugs in order to reduce the occurrence of hyperactivity and so on. Typically, it's drugs that are used for ADHD, but, they have limited success and they are not really designed for this disease. I think that, ultimately, they don’t really do a lot in terms of managing the disease for the parents. Then of course there are constant recurrity and T — infections, surgeries and so on. As kids get confined to a wheel chair it becomes a really significant problem, as well for breathing difficulties.

Essentially, we need treatment because we don’t have anything out there at the moment. I’ve been working in this field now for 12 years and I’ve seen patients come and go who have basically missed the boat for treatment. It doesn’t get any easier every time you see it. What I can say is we are working as hard as we can and as fast as we can to develop these treatments. One of the reasons we wanted to develop a range of treatments. So, we started off with the substrate injection therapy with Genistein. We continued with gene therapy approaches which are really quite long term to develop into clinical trial. And we also came up with these anti-inflammatory approaches. I think you need a holistic approach to a disease like this because you need to have a lot of different options available and ultimately combination therapies will be the way forward for these treatments.


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