First Clinical Data on Ornithine Transcarbamylase Deficiency Program to be presented at the European Society of Gene & Cell Therapy 31st Annual Meeting 2024

London, UK, 01 October 2024 – Bloomsbury Genetic Therapies Limited (“Bloomsbury”), 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, today announced that clinical data for BGT-OTCD, the Company’s AAV-LK03 gene therapy candidate for the treatment of ornithine transcarbamylase deficiency (OTCD), will be featured for the first time in a poster presentation at the upcoming 31^st Annual Meeting of European Society of Gene & Cell Therapy (ASGCT), which is being held in Rome, Italy from 22-25 October 2024.

BGT-OTCD is an investigational AAV-LK03 gene therapy designed to provide a potentially curative solution to OTCD patients following a one-time intravenous injection. Current standard of care in OTCD involves protein-restricted diets and ammonia-scavenger medications; however, these approaches can have a significant impact on patients’ quality of life and patients still face a lifelong risk of decompensation and neurological damage resulting in intellectual disability, developmental delays, and movement disorder. Over 10,000 patients suffering from OTCD have been identified worldwide.

The Company’s collaborators from University College London will present clinical data from the first patient treated in HORACE (Halting Ornithine transcarbamylase deficiency with Recombinant AAV in ChildrEn; NCT 05092685) BGT-OTCD’s ongoing phase 1/2 clinical trial.

Details of the poster presentation at ESGCT Annual meeting:

Title: First patient treated in the phase 1–2 trial of AAVLK03hOTC gene therapy for ornithine transcarbamylase deficiency in children 

Session: Poster Session III, Thursday 24 October, 14:00 to 15:30

Poster Number: P0873

Presenter: Paul Gissen, University College London

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 www.bloomsburygtx.com

About BGT-OTCD

BGT-OTCD is an investigational AAV-LK03 gene therapy designed to provide a potentially curative solution to OTCD patients following a one-time intravenous injection. AAV-LK03 was selected for its high tropism for liver cells and its success in other liver disorders such as haemophilia A. BGT-OTCD has been granted Orphan Drug Designation (ODD) for the treatment of OTCD by the European Commission (EC) and the US Food and Drug Administration (FDA) as well as Rare Pediatric Disease Designation (RPDD) from the FDA.  BGT-OTCD is currently being evaluated in HORACE (Halting Ornithine transcarbamylase deficiency with Recombinant AAV in ChildrEn; NCT 05092685), a Phase 1/2 clinical trial initiated in November 2023.

About Ornithine Transcarbamylase Deficiency

Ornithine transcarbamylase deficiency (OTCD) is a rare, X-linked genetic disorder that is characterised by complete or partial lack of the OTC enzyme. OTC enzyme is a key component of the urea cycle and patients with OTCD accumulate nitrogen waste in the form of excess ammonia (hyperammonaemia) in the blood, causing hyperammonaemic decompensations with symptoms including vomiting, impaired voluntary movement and progressive lethargy. If left untreated, these may progress to coma and life-threatening complications. While later onset disease can occur in adults with a milder form of the disorder, symptoms present within a few days of birth of males with severe OTCD. Patients are rapidly diagnosed (urine and blood biochemical analyses, gene sequencing) when they present at hospital/are admitted to intensive care with acute hepatic decompensation and hyperammonaemia.

Current standard of care involves protein-restricted diets and ammonia-scavenger medications; however, these approaches can have a significant impact on patients’ quality of life and patients still face a lifelong risk of decompensation and neurological damage resulting in intellectual disability, developmental delays, and movement disorder. Liver transplant is the only curative option, but is often unavailable and comes with significant morbidity/mortality risk and lifelong immunosuppression and arginine supplementation. Over 10,000 patients suffering from OTCD have been identified worldwide.