SynaptixBio is a rare disease biotech pioneering ground-breaking development for treatment of severe leukodystrophies.
Leukodystrophies affect the brain and manifest with a spectrum of severity and symptoms. Onset is typically recognised in toddlers with developmental delays and deterioration of motor function (gait dysfunction and difficulties with sitting, speech and swallowing). Often survival is limited to the stage of young adulthood.
SynaptixBio will tackle a specific acute subset of leukodystrophies by altering the expression of a mutated gene identified as causing the disease.
Rare diseases affect approximately 1 in 2,000 people and can be severely disabling. They can be chronic and life-threatening with misdiagnosis common.
Of the known rare diseases 80% have genetic causes which are difficult to treat with no effective therapies which tackle the disease cause.
Leukodystrophies are a group of rare genetic disorders for which there is no curative therapy.
Leukodystrophies are a group of 52 rare genetic conditions that affect the brain, spinal cord and often the peripheral nerves. Each leukodystrophy is caused by a gene mutation, either inherited or spontaneous, that leads to abnormal development or destruction of the white matter of the brain. White matter is the white hue seen on nerves in the brain and due to the lipids in myelin. The myelin sheath is the protective covering of the nerve. Nerves cannot function properly without it. It ensures nerve impulses (action potentials) travel along the nerve cell quickly and efficiently by insulating sections of the nerve axon causing the impulses to jump between the Nodes of Ranvier acting like signal amplifiers on a telephone cable.
Disruption of growth or maintenance of the myelin sheath results in retardation or stopping of nerve impulses which in certain areas of the brain such as the Basal Ganglia and Cerebellum results in deterioration of motor function (including walking, sitting, speech and swallowing), developmental delays and gait dysfunction.
Leukodystrophies are found in both adults and children but are common in children with onset typically observed in toddlers. In severe cases quality of life is strikingly impacted and survival is often limited to the stage of young adulthood. Most treatment is merely symptomatic and supportive.
Approximately 9% of all Leukodystrophies are related to a form of Tubulin found exclusively in the brain, ß-Tubulin 4a. This protein forms one of the building blocks required for the formation of the cytoskeleton required for positioning and deposition of the myelin sheaths.
Mutations in TUBB4a, the gene encoding ß-tubulin 4a, produce a form of the protein that disrupts the oligodendrocyte cell from producing microtubules (required for cytoskeleton formation). This results in hypomyelination of the nerve axons.
A therapy that disrupts the production of the toxic mutated protein could rescue this phenotype and has the potential to preserve myelination.
Using a broad platform including antisense oligonucleotide (ASO) based technology, SynaptixBio aims to silence the expression of the toxic mutated gene and prevent disease progression.