- The US Food and Drug Administration (FDA) has approved BlackfinBio Limited’s Phase 1/2 clinical trial for its novel adeno-associated virus (AAV) gene therapy targeting Hereditary Spastic Paraplegia (HSP) Type 47 (SPG47)
- BlackfinBio is a spinout company from the University of Sheffield
- HSP is a slow-progressing rare disease that causes malformation of the brain. Symptoms such as muscle weakness, developmental delays, impaired speech and progressive motor skills often show up in early childhood. There is currently no cure and no effective treatment for this debilitating disease
- The trial will be conducted in the United States at Boston Children’s Hospital, and will assess the safety, tolerability, and preliminary efficacy of its AAV gene therapy in patients with SPG47
, a spinout company from the University of Sheffield, has received approval from the US Food and Drug Administration (FDA) to trial a novel therapy for a rare genetic neurological disease.
The company received approval for its Investigational New Drug (IND) application to begin Phase 1/2 clinical trial for its novel adeno-associated virus (AAV) gene therapy targeting Hereditary Spastic Paraplegia, Type 47 (SPG47).
The trial will be conducted in the United States at Boston Children’s Hospital, and will assess the safety, tolerability, and preliminary efficacy of its AAV gene therapy in patients with SPG47.
SPG47 is a slowly-progressing rare disease that causes malformation of the brain. It is caused by a specific mutation in the SPG47 gene that creates a deficiency of the AP4B1 protein which normally transports other molecules around inside the cells of the nervous system. Symptoms such as muscle weakness, developmental delays, impaired speech and progressive motor skills often show up in early childhood. There is currently no cure and no effective treatment for this debilitating disease.
In 2023, BlackfinBio raised £2.75 million seed investment to advance revolutionary treatments for Hereditary Spastic Paraplegia (HSP). The company will manage the development of gene therapy for the HSP sub-type 47 (SP47) and raise funds for clinical trials.
BlackfinBio’s AAV-based gene therapy aims to address the underlying genetic cause of SPG47 by delivering a functional copy of the AP4B1 gene, with the goal of halting or reversing disease progression.
BlackfinBio is built on research from leading gene therapy expert Professor Mimoun Azzouz, Chair of Translational Neuroscience in the internationally renowned Sheffield Institute for Translational Neuroscience at the University of Sheffield.
Professor Mimoun Azzouz, Scientific Founder of BlackfinBio, said: “We are thrilled to take this important step forward in our mission to develop transformative therapies for patients with rare neurological diseases. This marks not just a major scientific advancement, but offers hope for the families of children living with the relentless challenges of Hereditary Spastic Paraplegia.
“The milestone underscores our unwavering commitment to translate groundbreaking research into meaningful impact for those who need it most. We look forward to working closely with the FDA and the clinical team at Boston Children’s Hospital as we advance this programme.”
Peter Nolan, CEO of BlackfinBio Limited, said: “The FDA’s clearance of the BFB-101 IND is an important milestone for our rare neurological disease programme and the company. We look forward to initiating enrollment in the US later this year and are working closely with the investigator team at Boston Children’s Hospital to evaluate the therapeutic utility of this gene therapy in children with SPG47.”
The trial is expected to commence recruiting by the end of 2025.
Additional information
For more information about the trial, please contact BlackfinBio Limited at enquiries@blackfin.bio
About BlackfinBio
In 2023, BlackfinBio emerged as a spinout from the University of Sheffield, focusing on the development of groundbreaking gene therapies aimed at addressing the significant unmet medical needs of rare genetic diseases such as SPG47. The foundation of BlackfinBio is built upon the research conducted by world-renowned scientist Professor Mimoun Azzouz based at SITraN at the University of Sheffield. The research was supported by Cure AP-4 () and LifeArc (). This project has also received partial funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 945473 to support AAV9 capsid synthesis and immune response study. This Joint Undertaking receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA [Pfizer, Bayer]. BlackfinBio aims to advance genetic research methods to improve the treatment landscape for those affected by these rare debilitating conditions.
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About Cure AP-4
Cure AP-4 is a non-profit organization founded in 2016 by families of two of the known SPG47 patients. It was originally founded as Cure SPG47, but the mission has since expanded to include all four AP-4 related disorders due to shared natural history, goals and patient/family needs.
For more information please go to:
About LifeArc
is a not-for-profit medical research organisation that turns promising scientific research into impact for people living with rare diseases and global infectious diseases.
It forms partnerships, and provides scientific expertise and funding to help break down the barriers preventing scientific breakthroughs from becoming life-transforming treatments and cures. It has been doing this for more than 30 years and its work has resulted in five licensed medicines, including cancer drug pembrolizumab and lecanemab for Alzheimer’s disease.
LifeArc's goal is a world where no one with a rare disease or a global infectious disease misses out on life-changing innovation because of complexity, cost or risk.
LifeArc is a company limited by guarantee (registered in England and Wales under no. 2698321) and a charity (registered in England and Wales under no. 1015243 and in Scotland under no. SC037861).
