There are currently four types of Sanfilippo
syndrome, Type A, B, C and D, which are
caused by a lack of enzymes, which helps to
break down and recycle long chain sugars
and results in a build-up of sugars in the
body and particularly the brain.
Sanfilippo Type B affects around one in
200,000 live births, whereas the most
common of the four types, Sanfilippo Type
A affects around one in 100,000 live births
in the UK.
Affected children suffer from hyperactivity,
speech loss, profound mental disability and
eventually lose the ability to walk, talk or eat.
Brian Bigger, Professor of Cell and Gene
Therapy at the University, said a stem cell
gene therapy technology developed in his
laboratory and recently published in the
prestigious journal Brain1 and selected for
Editor's choice, will be used by Orchard
Therapeutics to treat Sanfilippo syndrome
Type B after the company recently acquired
an exclusive licence.
Professor Bigger said: "UK-based clinical-
stage biotechnology company Orchard
Therapeutics is already a trusted collaborative
partner and the acquisition of the licence for
Sanfilippo Type B complements the existing
collaboration program already in place for
Sanfilippo Type A.
"We are very hopeful that this will be
transformative for patients, and that this
technology will change the lives of children
with Sanfilippo Type A and Type B.
"As it stands the disease is incurable and
people with Sanfilippo syndrome normally
live until adolescence or early adulthood
after suffering for many years.
"Children with Sanfilippo begin
showing symptoms of hyperactivity,
severe behavioural problems and miss
development milestones as toddlers. Later
they show symptoms similar to dementia
with most never achieving a developmental
age beyond two years."
Dr Jesus Garcia-Segovia, Orchard's VP
Clinical Development, CNS and Metabolic
Disorders commented: "The incorporation
of Sanfilippo syndrome type B into our
development pipeline is a significant
milestone in the consolidation of our
neurometabolic franchise, which is currently
focused on the development of autologous
ex-vivo haematopoietic stem-cell gene
therapy for children suffering from Sanfilippo
syndrome type A. We are very excited at the
possibility of bringing effective treatments
capable of addressing the high unmet
medical need in children suffering from these
devastating conditions."
Furthermore, Professor Bigger said the stem
cell gene therapy, if successful, could also
lead to major breakthroughs in treatment of
more common diseases.
"If this is successful we could be in line for
treating more common diseases such as
Parkinson and Alzheimer diseases.
"If we can show that it is possible to treat
single gene brain diseases such as Sanfilippo
with stem cell gene therapy, it will pave the
way for other treatments.
"We are also grateful to the University's
technology transfer company, UMI
3
Ltd, for
their role in negotiating the terms of this
major deal with Orchard Therapeutics."
1 https://academic.oup.com/brain/article-
lookup/doi/10.1093/brain/awx311
DOI 10.1093/brain/awx311
