London, UK, 13 November 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, is proud to celebrate its one-year anniversary. Since its official launch last October with £5 million in Seed funding, the Company has made important progress across all pipeline programs, demonstrating high performance execution and achieving significant value creation.
Key achievements at a glance:
- One program in the clinic: HORACE (Halting Ornithine transcarbamylase deficiency with Recombinant AAV in ChildrEn, NCT05092685), a phase 1/2 clinical trial evaluating BGT-OTCD, Bloomsbury’s investigational AAV-LK03 gene therapy, was successfully initiated this month by its collaborators, University College London (UCL).
- One new pipeline program in a large indication: Bloomsbury launched a new pipeline program, BGT-PD, an investigational gene therapy candidate for Parkinson’s Disease (PD), following compelling findings from a preclinical proof-of-concept study. BGT-PD relies on the same gene therapy vector encoding for the dopamine transporter (DAT) protein used in the Company’s BGT-DTDS program, which is being developed concurrently for the treatment of Dopamine Transporter Deficiency Syndrome (DTDS).
- Five successful regulatory interactions: Bloomsbury successfully held three Scientific Advice meetings with the UK Medicines and Healthcare products Regulatory Agency (MHRA) for its preclinical programs BGT-DTDS, BGT-NPC, an investigational AAV9 gene therapy for Niemann-Pick Disease type C (NPC) and BGT-INAD, an investigational AAV9 gene therapy for Infantile Neuroaxonal Dystrophy (INAD). Bloomsbury also received meaningful feedback from Type B pre-IND interactions with the US Food and Drug Administration (FDA) for BGT-NPC and BGT-INAD.
- Two completed preclinical efficacy studies: BGT-NPC and BGT-INAD completed short and long-term preclinical efficacy studies, demonstrating compelling results. Select program data were presented at 29th and 30th ESGCT Congresses, and the 26th ASGCT Annual Meeting.
- Seven Orphan Drug Designations (ODDs) and four Rare Pediatric Disease Designations (RPDDs): Bloomsbury received EU and US ODDs and US RPDDs for each of its four rare disease gene therapy programs.
- Two pilot vector batches manufactured at partner CDMO: Bloomsbury successfully completed pilot vector manufacturing for its BGT-DTDS and BGT-INAD programs, marking the first step towards full-scale GMP manufacturing and preparation for single P1/2/3 clinical trials.
- Two grants obtained: Bloomsbury has built strong relationships with patient organisations in its focussed disease areas and received grant funding from Cure INAD UK and The Hide and Seek Foundation to support key research activities being undertaken in its BGT-INAD and BGT-NPC programs.
“I am proud of how much the Bloomsbury team of six employees has accomplished over the past year. The success is a testament to the expertise and experience of a dedicated team, the potential of Bloomsbury’s best-in-class programs, and is a validation of the strategic approach Bloomsbury is taking to develop gene therapies for rare diseases,” said Frank Armstrong, Chairman of Bloomsbury. “I am also excited for 2024, which will build on these achievements and is when we expect to achieve clinical proof of concept for BGT-OTCD, as well as further progress towards clinical readiness of our preclinical programs.”
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Tel: +44 (0)7818 430877
About Bloomsbury Genetic Therapies
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 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.
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 Dopamine Transporter Deficiency Syndrome
Dopamine Transporter Deficiency Syndrome (DTDS) is a rare, autosomal recessive childhood neurological disorder with significant disease burden, characterised by a severe parkinsonian movement disorder. DTDS results from biallelic mutations in the SLC6A3 gene which encodes the dopamine transporter (DAT), a key protein regulating dopaminergic signalling. Dopamine re-uptake by DAT is the principal mechanism by which dopamine is removed and recycled from synapses. Mutations in SLC6A3 result in DAT dysfunction and major dysregulation of dopamine neurotransmission, leading to hyperkinetic movement disorders in the early stages of the disease, and then evolution of parkinsonism-like features (slowing of voluntary movements, loss of facial expression, tremor, stiffness) and eye movement disorders such as oculogyric crises. The disease is often fatal in childhood to teenage years due to unexplained death in sleep or respiratory failure. There are currently no disease-modifying treatments or approved therapies for DTDS, and patients derive little clinical benefit from available symptom control medications. The disease is currently poorly diagnosed, due to symptoms similarity with other movement disorders including cerebral palsy, and the number of patients with the condition is unknown.
BGT-DTDS is an investigational AAV2 gene therapy designed to provide a potentially curative solution to DTDS patients following a one-time intra-brain injection to the substantia nigra and ventral tegmental area. BGT-DTDS has completed preclinical efficacy studies and the Company is currently preparing for a first-in-human clinical trial. BGT-DTDS has been received Orphan Drug Designation by the European Commission (EC) and the U.S. Food and Drug Administration (FDA) as well as Rare Pediatric Disease Designation (RPDD) by the FDA for the treatment of DTDS.
About Parkinson’s Disease
Parkinson’s Disease (PD) is a progressive neurodegenerative disorder characterised by gradual loss of dopamine-producing brain cells resulting in progressive impairment of motor function (tremors, muscle rigidity, bradykinesia and postural instability) as well as non-motor function (e.g., cognitive impairment, mood alterations, sleep disturbance). Global estimates in 2019 showed over 8.5 million individuals affected by PD.
Standard of care for PD patients involves a multidisciplinary approach to manage and alleviate symptoms and improve overall quality of life. There are no approved disease-modifying therapies for PD and levodopa, a precursor of dopamine, remains the most effective, first-line treatment to control motor symptoms in early disease stages. However, as the disease progresses, levodopa use has been associated to the development of motor fluctuations and dyskinesia limiting its long-term efficacy.
BGT-PD is an investigational AAV2 gene therapy designed to provide increased dopamine transporter (DAT) activity in the nigrostriatal system of PD patients following a one-time intra-brain injection. The investigational therapy has been originally developed as a potentially curative solution for DTDS, a rare, monogenic disorder caused by mutations in DAT gene leading to parkinsonism-like clinical features and premature death in childhood/teenage years. BGT-PD is currently being investigated in preclinical studies as a potentially symptomatic and disease modifying treatment for PD patients. For more information, please visit
About Niemann-Pick Disease Type C
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.
BGT-NPC is an investigational AAV9 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 been granted Orphan Drug Designation (ODD) for the treatment of NPC by the European Commission (EC) and the US Food and Drug Administration (FDA), as well as Rare Pediatric Disease Designation (RPDD) from the FDA.
About Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy (INAD) is a devastating and fatal autosomal recessive paediatric neurodegenerative disease caused by mutations in the PLA2G6 gene that affects the catalytic activity of its protein product, a calcium-independent phospholipase A2 protein located in mitochondria and axons. When PLA2G6 is defective, mitochondrial inner membrane integrity is damaged, and phospholipid accumulation in axons causes neuronal damage. Given greater disease awareness and advances in next generation sequencing technologies, INAD is increasingly diagnosed at a younger age, with the majority of affected children now diagnosed by 2 years of age. Symptoms usually begin between 6 months and 3 years of age and include a rapid decline in previously acquired skills such as walking and talking, with the subsequent evolution of seizure, axonal neuropathy and generalised spasticity leading to loss of neurodevelopmental skills and complete dependence for all daily living activities. From presentation, there is gradual loss of motor and cognitive skills, most losing ambulation by 5 years of age with the average age of death around 10 years of age. There are currently no disease-modifying treatments for INAD and affected patients derive limited clinical benefit from available medical therapies used for symptom control. The prevalence of INAD is poorly documented, it is estimated to be approximately 0.3/100,000 worldwide.
BGT-INAD is an investigational AAV9 gene therapy designed to provide a potentially curative solution to INAD patients following a one-time injection in the cerebrospinal fluid (CSF). BGT-INAD is currently completing preclinical studies, with compelling preclinical efficacy data already demonstrated. BGT-INAD has been granted Orphan Drug Designation (ODD) for the treatment of INAD by the European Commission (EC) and the US Food and Drug Administration (FDA), as well as Rare Pediatric Disease Designation (RPDD) from the FDA.