- Niemann-Pick disease Type C is a devastating neurodegenerative condition that affects children and young people.
- Florey researchers are investigating whether an mRNA gene therapy can be used to restore neurological function in those with the disease.
- Florey work on Niemann-Pick is made possible by the Australian NPC Disease Foundation, started by Mandy Whitechurch whose 2 sons both have the disease.
It’s personal: Mother’s dedication helps fund research into rare disease affecting her sons
Florey researchers are investigating mRNA treatments for the neurodegenerative condition Niemann-Pick disease Type C, thanks to a foundation established by the mother of two men with the disease.
Niemann-Pick disease Type C or NP-C is a form of dementia that causes children and young people to suffer irreversible and progressive intellectual decline, loss of motor skills, seizures and eventually death. October 19 is Niemann-Pick Awareness Day.
Using an mRNA gene therapy approach – the same technology employed to create COVID-19 vaccines – Florey researchers hope to correct the action of the mutation in the gene that causes NP-C.
The research is made possible, in part, thanks to a cumulative $500,000 raised by the Australian NPC Disease Foundation over 10 years.
Mandy Whitechurch – mother of Timothy, 35, and Matthew, 37 who both have NP-C – started the foundation about 15 years ago. It now includes a team of dedicated volunteers and NP-C families.
The average life expectancy after diagnosis with NP-C is 10 years.
Timothy was diagnosed aged 18 in 2007, Matthew 6 months later.
“The foundation’s work isn’t going to help my boys,” Ms Whitechurch said. “But it’s going to help somebody else. We’ve got to have hope. We can’t give up on our kids, we’ve got to be their voice.”
Timothy now needs 24-hour care, and Matthew has carers visit 7 days a week.
Although it might not seem like it, there is hope – in the form of research like that happening at The Florey.
Dr Ya Hui Hung is leading The Florey’s work on an mRNA treatment for NP-C, and is grateful for the foundation’s dedication and generous support. She has gone on to attract funding from mRNA Victoria, Australia’s Medical Research Future Fund and the Percy Baxter Charitable Trust.
“We are moving into preclinical study of an mRNA gene therapy, working on how to get it across the blood-brain barrier into the brain to restore neurological function,” she said.
“Mandy and the foundation supported my idea of pursuing an mRNA gene therapy for NP-C in 2018, before mRNA had been successfully used in COVID vaccines. The project would not have taken off without their initial support and trust in me in the days when not many people believed in mRNA as a useful therapeutic modality.”
19 October is Niemann-Pick Awareness Day.
