Bloomsbury Genetic Therapies Receives Rare Pediatric Disease Designation from the U.S. FDA for BGT-NPC for the Treatment of Niemann-Pick Disease Type C (NPC)

– RPDD granted in the United States –


London, UK, 21 August 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 the U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease Designation (RPDD) for BGT-NPC, the company’s investigational gene therapy for the treatment of NPC.

BGT-NPC is currently completing preclinical efficacy studies, with promising data recently published in “A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann–Pick Type C1 Disease”, available online via this link. In June, the Company announced that the UK Medicines and Healthcare Products Regulatory Agency (MHRA) supported the Company’s plans to conduct a single toxicology and biodistribution study in rodents ahead of a single, Phase 1/2/3 clinical trial.

“We are very happy to be granted this important designation by the FDA, following our great regulatory momentum and the progress with the program via our collaboration with University College London,” said Adrien Lemoine, Co-Founder & Chief Executive Officer of Bloomsbury.

The FDA grants RPDD for serious or life-threatening diseases which affect fewer than 200,000 people in the United States and in which the serious or life-threatening manifestations primarily affect individuals less than 18 years of age. If a Biologics Licensing Application (BLA) for BGT-NPC for the treatment of NPC is approved by the FDA, Bloomsbury may be eligible to receive a Priority Review Voucher (PRV) that can be redeemed to receive a priority review for any subsequent marketing application, or may be sold or transferred.


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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. BGT-NPC has received Rare Pediatric Disease Designation (RPDD) from the U.S. Food and Drug Administration (FDA).


About Niemann-Pick Disease Type C

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.