Advanced therapies for treating rare diseases
to treat deadly and currently incurable rare diseases.
uses cutting-edge gene silencing technology
Our Mission
To improve the lives of patients with rare brain disorders by developing advanced gene silencing therapies.
Leukodystrophies are rare genetic disorders that affect the white matter of the brain and spinal cord. White matter consists of nerve fibres and the myelin sheath that insulates them.
They typically affect babies and young children and are life-limiting.
Our Aim
Bring to market a therapeutic to treat H-ABC, the most severe form of TUBB4A leukodystrophy
Our Motivation
Thousands of children suffer from debilitating leukodystrophies; movement, cognitive development, vision, swallowing, and speech, are typically impaired.
18,000 babies every year are born with a leukodystrophy, of which around 1,650 are TUBB4A-related. It is a rare, deadly, and currently incurable disease.
SynaptixBio is the only company licensed to commercialise a treatment.
Develop seizures, muscle contractions
Patients will often have difficulty walking, sitting up and swallowing
Difficulties with
speech and hearing
Other functions are affected as the condition progresses
Uncontrollable limbs and paralysis
Even those who have developed motor skills in early childhood can regress
Drastically lowered
life expectency
Babies and children who develop the mutation often face an early death.
How leukodystrophy affects sufferers
The numbers
140m
Children born
globally in 2021
0.013%
Leukodystrophies affect 1 in 7,500 births
18k
Newborns per year have leukodystrophy
1
Biotech developing a therapy for the deadly condition
We are far advanced in the process of selecting a candidate drug for clinical trials.
We are now opening up new opportunities to be part of our vitally important mission to develop a treatment for this rare, deadly, and currently incurable disease.
We use a form of gene silencing, called an antisense oligonucleotide (ASO), to stop the mutated TUBB4A gene from producing its associated toxic protein.
ASO's target the mutatated TUBBA4 gene stopping production of the toxic proteins that cause hypomyelination.
Hypomyelination means depletion of the myelin sheath that surrounds nerve fibres in the brain, disrupting the signals that flow along them.
Normal nerve
Hypomyelination nerve
Our science
There are over 50 known leukodystrophies, which affect the white matter of the Central Nervous System (brain and spinal cord).
A mutation in the TUBB4A gene causes a range of different conditions, from the most severe
(H -ABC) to the least (Isolated Hypomyelination).
Development Pipeline
We hold from the FDA two Rare Paediatric Drug Designations (RPDD) and two Orphan Drug Designations (ODDs), for H-ABC and for Isolated Hypomyelination. We are also developing a pipeline in related neurodegenerative disorders.
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Let's transform lives together
If you would like to join us on our journey email us today.
Let's transform lives together
If you would like to find out more about joining us on our journey email us today.