New Preclinical Data on CNS Programs to be presented at European Society of Gene & Cell Therapy Congress 2022 and International Symposium on NBIA

London, UK, 10 October 2022 – Bloomsbury Genetic Therapies Limited (“Bloomsbury”), a 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 pre-clinical data from two of its brain-targeted programs, BGT-INAD and BGT-DTDS, will be featured respectively in an oral presentation and a poster at the upcoming European Society of Gene & Cell Therapy (“ESGCT”) Congress 2022 to be held on 11-14 October 2022 in Edinburgh, Scotland. In addition, the Company’s founding scientists, Professor Manju Kurian and Professor Ahad Rahim, will be presenting pre-clinical data from BGT-INAD and infantile neuroaxonal disease (“INAD”)  in oral presentations at the upcoming 8th International Symposium on NBIA to be held on 13-15 October 2022 in Lausanne, Switzerland.

 

European Society of Gene & Cell Therapy Congress 2022

Presentation Title: AAV9-mediated gene therapy in a knock-in mouse model of infantile neuroaxonal dystrophy
Presentation Number: OR30
Session: Parallel 3a – CNS and sensory diseases I
Presenting Author: Dr Amy Geard, UCL London

Presentation Title: Long term correction of Dopamine transporter deficiency syndrome following midbrain gene therapy
Presentation Number: P224
Presenting Author: Dr Joanne Ng, UCL EGA Institute for Women’s Health

 

8th International Symposium on NBIA

Presentation Title: Towards precision therapies for NBIA
Session: Session 5, PLAN/INAD & FAHN
Presenting Author: Professor Manju Kurian, UCL

Presentation Title: PLA2G6-associated neurodegeneration – update
Session: Session 5, PLAN/INAD & FAHN
Presenting Author: Professor Manju Kurian, UCL

Presentation Title: Developing gene therapy for PLAN and moving towards clinical trials
Session: Session 5, PLAN/INAD & FAHN
Presenting Author: Professor Ahad Rahim, UCL

 

ENDS

 

Enquiries

JW Communications
Julia Wilson
Tel: +44 (0)7818 430877

 

About Bloomsbury Genetic Therapies (“Bloomsbury”
Bloomsbury is a 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 UCL and launched in October 2022 with £5M in Seed funding from UCL Technology Fund and is underpinned by world-leading gene therapy and rare disease expertise from the Company’s academic founders, Professor Paul Gissen, Professor Manju Kurian, Professor Ahad Rahim and Professor Simon Waddington. Bloomsbury is building a pipeline of highly differentiated first- or best-in-class programs. For more information, please visit www.bloomsburygtx.com

 

About BGT-INAD for Infantile Neuroaxonal Dystrophy (INAD)
BGT-INAD is a neuron-targeted AAV9 investigational gene therapy designed to provide a potentially curative solution to INAD patients following a one-time intra-brain injection. The program is currently in pre-clinical development.

About Infantile Neuroaxonal Dystrophy (INAD)
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. Incidence is poorly documented and around 300 patients suffering from INAD have been identified currently worldwide.

 

About BGT-DTDS for Dopamine Transporter Deficiency Syndrome (DTDS)

BGT-DTDS is a neuron-targeted AAV2 investigational gene therapy designed to provide a potentially curative solution to DTDS patients following a one-time intra-brain injection. The program is currently in pre-clinical development.

About Dopamine Transporter Deficiency Syndrome (DTDS)
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 to SLC6A3 result in DAT dysfunction and major dysregulation of dopamine neurotransmission, leading to hyperkinetic movement disorders in early stages of the disease, and then evolution of Parkinson’s disease-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 nor 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, and the number of patients with the condition is unknown. Around 50 patients suffering from DTDS are currently identified worldwide.