Our Pipeline
Pioneering Hope in Rare Diseases
Our innovative research consists of a growing portfolio of highly promising programs offering treatments and life-changing opportunities for patients worldwide.
BFB-101: Spastic Paraplegia 47 (SPG47)
SPG47 is an ultra-rare form of AP-4 Hereditary Spastic Paraplegia (AP-4 HSP) with an estimated prevalence in excess of 5,000 patients worldwide. It’s a progressive neurodevelopmental and neurodegenerative disease characterised by early childhood spasticity, microencephaly and seizures.
The science behind the disease
The AP4B1 gene helps to move things inside our cells, specifically from the trans-Golgi network to the endosomal compartment. When this gene does not work correctly, we call it a loss-of-function mutation, which causes SPG47.
A potential solution
BFB-101 is a patented AAV vector that expresses the AP4B1 gene, developed by Professor Mimoun Azzouz at the University of Sheffield with the support of Cure AP-4 and LifeArc.
It is administered via the brain as a single lifetime dose and has shown potential in restoring AP-4 function in vitro and improving motor function in AP4B1 mutant mice.
Next stages
As a late-stage pre-clinical project, we anticipate filing an IND in the U.S. for a phase I/II clinical trial in early 2025. In mid-2025, we will be ready to begin the clinical trial of BFB-101 and are in the process of securing further funding to embark on this exciting new phase of the project.
BFB-201: Dopamine Replacement as a Therapeutic Strategy
- A depletion in dopamine has been shown to be a cause of many serious neurological diseases including Parkinson’s disease, restless leg syndrome, ADHD and depression.
- Following a detailed investigation, the company has identified the following ultra rare neurological diseases caused by dopamine deficiency for which no treatment exists: sepiapterin reductase deficiency (SRD), 6-pyruvoyl tetrahydropterine synthase deficiency (PTPSD), dihydropterine reductase (DHPR) and tyrosine hydroxylase (TH).
- BFB-201 is an adeno-associate virus (AAV) based gene therapy in development to treat these rare diseases in a one-time treatment administered to the brain. As these rare diseases are clinically similar, they could likely be treated as a single disorder group during clinical development.
- BFB-201 is designed to uniquely deliver AADC, TH and CH1 genes in a single gene fusion cassette –– all of which are required for optimal dopamine synthesis. Administering these three genes together in an AAV would represent a scientific and clinical breakthrough, offering improved outcomes for patients and addressing the limitations of other dopamine replacement strategies e.g. lack of efficacy and off-target effects of L-Dopa treatment.
- Clinical validation already exists as others have previously shown in clinical studies that delivering these three genes together is safe and efficacious in 21 patients for over 10 years.