Bloomsbury Genetic Therapies Announces Publication of Article Highlighting Preclinical Data from BGT-NPC Program, Supporting BGT-NPC as a Potential Treatment for Niemann-Pick Disease Type C

London, UK, 14 June 2023 – Bloomsbury Genetic Therapies Limited, a clinical-stage biotechnology company developing potentially curative treatments for patients suffering from rare neurological and metabolic diseases based on clinically proven gene therapy technologies, announced today that an article highlighting first preclinical data from BGT-NPC, as a potential new brain-targeted therapeutic for the treatment of Niemann-Pick Type C Disease (NPC), was published in Cells. The article, titled “A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann–Pick Type C1 Disease”, is available online via this link.

The work, conducted by our colleagues at University College London (UCL) led by Professor Ahad Rahim, described for the first time the novel, minimal NPC1 endogenous promoter used in BGT-NPC demonstrating greater therapeutic effects as compared to a broad range of common promoters used in gene therapy. Furthermore, its small size allows for the large NPC1 gene to be efficiently accommodated in our AAV9 vector, which removes downstream manufacturing hurdles. Following intracerebroventricular (ICV) administration in neonatal NPC mice, BGT-NPC showed enhanced NPC1 protein expression, resulting in a significant improvement of animal survival, attenuated neuropathology, as well as improved locomotor deficit.

Following the recent positive feedback received from the UK Medicines and Healthcare products Regulatory Agency (MHRA), confirming the Company’s preclinical plans prior to initiating a registrational Phase 1/2/3 clinical trial for BGT-NPC, further preclinical studies are currently underway in juvenile NPC1 mice which will be pivotal to support advancement into the final toxicology and biodistribution study planned for 2024.

“We are pleased to announce the publication of our work leading to the identification of a novel, minimal NPC1 promoter used in BGT-NPC, demonstrating the significant therapeutic potential of brain-targeted AAV-mediated gene therapy for the treatment of NPC1.” said Professor Ahad Rahim, Professor of Translational Neuroscience at University College London (UCL), Wellcome Chair in Pharmacology and the Head of Pharmacology Department at the UCL School of Pharmacy. “We look forward to continuing our efforts with our partner, Bloomsbury Genetic Therapies, to accelerate the translation of this program into the clinic and provide a novel, effective treatment to patients affected by this devastating disease”.


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JW Communications

Julia Wilson

Tel: +44 (0)7818 430877


About Bloomsbury

Bloomsbury is a clinical-stage biotechnology company, developing potentially curative treatments for patients suffering from rare neurological and metabolic diseases based on clinically proven gene therapy technologies. The Company was spun out of University College London and launched in October 2022 with funding from UCL Technology Fund. Bloomsbury is building a pipeline of highly differentiated first- or best-in-class programs. For more information, please visit



BGT-NPC is an AAV9-based investigational gene therapy designed to provide a potentially curative solution to NPC patients following a one-time injection in the cerebrospinal fluid (CSF). BGT-NPC is currently completing preclinical studies, with compelling preclinical efficacy data already demonstrated.


About Niemann-Pick Disease Type-C (NPC)

NPC is a rare, inherited and fatal neurodegenerative disease. 95% of NPC cases are caused by mutations in the NPC1 gene that encodes for NPC1, a large protein which is embedded in the lysosomal membrane. When it is mutated or absent, both cholesterol and sphingolipids accumulate in the brain, liver, lungs, bone marrow, and spleen. Sphingolipids are known to play important roles in signal transduction and nerve-fibre insulation, and their abnormal storage leads to irreversible neurological damage. There are several disease subtypes which are categorised by the age of onset of neurological disease. The patients develop progressive disabilities such as impairment in swallowing and speech, epilepsy, cerebellar ataxia (an inability to coordinate balance, gait, extremity and eye movements), and progressive dementia. The speed of progression of symptoms depends on the age of onset, which ranges from just after birth through to late adulthood. There are no approved treatments for NPC in the US. Miglustat is approved in the EU, but its use only slows disease progression. There are no curative treatments currently approved for NPC and there is a significant need to improve the standard of care. The incidence of NPC is estimated to be ~1:100,000 live births worldwide.