Gene Therapy for Tay-Sachs and Sandhoff diseases
Lead Research Organisation:
University of Cambridge
Department Name: Medicine
Abstract
Gene Therapy for Tay-Sachs and Sandhoff diseases
Our aim is to treat the genetic problem that causes relentless and lethal neurodegenerative diseases (Tay-Sachs and Sandhoff diseases - termed GM2 gangliosidosis) in young people. A radical approach is needed because lysosomal diseases, of which GM2 gangliosidosis is a classical prototype, account for nearly half the burden of progressive intellectual and neurological deterioration diagnosed in UK children. No effective treatment is known and the caseload burden of progressive intellectual and neurological deterioration identified in 1164 children in the United Kingdom has immense human and societal costs. About 70 lysosomal diseases are known - two-thirds of which damage the brain. The importance of lysosomal disorders has recently been shown by the discovery that defective lysosomal function predisposes to Parkinsonism, thus investing this small cellular particle with central importance in the brain and neurodegenerative diseases which are prevalent in many communities.
Over 15 years of intensive scientific research we have perfected gene transfer to the living mammalian brain: we use agents (inactivated passenger viruses that do not cause disease), shown by others to be safe in humans, in efforts to advance treatment for such conditions. Deficient lysosomal components have the special advantage that gene transfer can be used to treat a small focus of tissue but the corrective factor is secreted from this target to be taken up by cells far away. In this way, inoculation of the vector for gene therapy into the brain on a single occasion can rescue the function of a large field of brain tissue and so greatly improve survival in young animals that would otherwise be moribund within a few months. We justify our plans in these studies to translate our previous research findings into patients because we have found that function of an essential enzyme in brain lysosomes can be maintained throughout the entire central nervous system (brain and spinal cord). Moreover, definitive correction of the defect resolves the disease hallmarks and prevents critical loss of brain cells, which cannot otherwise be replaced. Outcomes are optimal when gene therapy is given early.
We will develop Investigational Medicinal Products for first-into-human gene transfer studies as part of a clinical trial; there will be a single procedure by a neurosurgeon skilled in the safe administration of treatments to brain structures. This will involve generating effective treatments that can be tested for the first time in living human patients known to afflicted by GM2 gangliosidosis. Our trial will be based on our proof-of-concept studies with correction over years of the disease in Tay-Sachs and Sandhoff diseases authentically modelled in living animals; it will explore safety and early signs of effectiveness (phase I/II clinical trial).
A successful outcome would advance treatment for stricken children and young persons with this disease as well as patients affected by other, more familiar and prevalent neurodegenerative diseases.
Our aim is to treat the genetic problem that causes relentless and lethal neurodegenerative diseases (Tay-Sachs and Sandhoff diseases - termed GM2 gangliosidosis) in young people. A radical approach is needed because lysosomal diseases, of which GM2 gangliosidosis is a classical prototype, account for nearly half the burden of progressive intellectual and neurological deterioration diagnosed in UK children. No effective treatment is known and the caseload burden of progressive intellectual and neurological deterioration identified in 1164 children in the United Kingdom has immense human and societal costs. About 70 lysosomal diseases are known - two-thirds of which damage the brain. The importance of lysosomal disorders has recently been shown by the discovery that defective lysosomal function predisposes to Parkinsonism, thus investing this small cellular particle with central importance in the brain and neurodegenerative diseases which are prevalent in many communities.
Over 15 years of intensive scientific research we have perfected gene transfer to the living mammalian brain: we use agents (inactivated passenger viruses that do not cause disease), shown by others to be safe in humans, in efforts to advance treatment for such conditions. Deficient lysosomal components have the special advantage that gene transfer can be used to treat a small focus of tissue but the corrective factor is secreted from this target to be taken up by cells far away. In this way, inoculation of the vector for gene therapy into the brain on a single occasion can rescue the function of a large field of brain tissue and so greatly improve survival in young animals that would otherwise be moribund within a few months. We justify our plans in these studies to translate our previous research findings into patients because we have found that function of an essential enzyme in brain lysosomes can be maintained throughout the entire central nervous system (brain and spinal cord). Moreover, definitive correction of the defect resolves the disease hallmarks and prevents critical loss of brain cells, which cannot otherwise be replaced. Outcomes are optimal when gene therapy is given early.
We will develop Investigational Medicinal Products for first-into-human gene transfer studies as part of a clinical trial; there will be a single procedure by a neurosurgeon skilled in the safe administration of treatments to brain structures. This will involve generating effective treatments that can be tested for the first time in living human patients known to afflicted by GM2 gangliosidosis. Our trial will be based on our proof-of-concept studies with correction over years of the disease in Tay-Sachs and Sandhoff diseases authentically modelled in living animals; it will explore safety and early signs of effectiveness (phase I/II clinical trial).
A successful outcome would advance treatment for stricken children and young persons with this disease as well as patients affected by other, more familiar and prevalent neurodegenerative diseases.
Technical Summary
The overarching research objective is completion of a clinical trial of gene therapy for Tay-Sachs and Sandhoff diseases (GM2 gangliosidosis) - relentless neurodegenerative conditions due to inborn defects in lysosomal beta-hexosaminidases that degrade GM2 ganglioside. Definitive correction by gene transfer is warranted since there is no effective treatment: lysosomal diseases, of which Tay-Sachs is emblematic, account for 45% of progressive neurodegeneration diagnosed in UK children.
Investigational Medicinal Products for first-into-human gene transfer will be developed by extending preclinical research to generate safe and effective GMP-grade clinical vectors for use in an open-label phase I/II single-centre clinical trial in infants and young patients with GM2 gangliosidosis. Therapeutic vectors expressing human hexosaminidase subunits will be surgically delivered to intracranial structures on a single occasion using convection-enhanced delivery.
The research stratagem is based on proof-of-concept studies showing long-term restoration of lysosomal function by recombinant adeno-associated viral (rAAV) vectors expressing wild type enzyme subunits in GM2 gangliosidosis modelled authentically in mice and cats. Once-only intracranial inoculation of monocistronic vectors preserves neurological function and induces >2 year survival in animals that would otherwise be moribund by 4 months.Outcomes are optimal when gene therapy is given early.
We justify translation to patients because enzymatic augmentation is sustained throughout brain and spinal cord with rescue of disease hallmarks and neuronal loss. We will study rAAV vector serotypes (eg 2/1 and 2/rh.10) for optimally safe and effective expression; preclinical research will be dovetailed with patient evaluation for study enrollment. Individual patient outcomes will be assessed longitudinally using neurological, neuropsychiatric and MR studies with life-quality scoring and compared with the natural disease course.
Investigational Medicinal Products for first-into-human gene transfer will be developed by extending preclinical research to generate safe and effective GMP-grade clinical vectors for use in an open-label phase I/II single-centre clinical trial in infants and young patients with GM2 gangliosidosis. Therapeutic vectors expressing human hexosaminidase subunits will be surgically delivered to intracranial structures on a single occasion using convection-enhanced delivery.
The research stratagem is based on proof-of-concept studies showing long-term restoration of lysosomal function by recombinant adeno-associated viral (rAAV) vectors expressing wild type enzyme subunits in GM2 gangliosidosis modelled authentically in mice and cats. Once-only intracranial inoculation of monocistronic vectors preserves neurological function and induces >2 year survival in animals that would otherwise be moribund by 4 months.Outcomes are optimal when gene therapy is given early.
We justify translation to patients because enzymatic augmentation is sustained throughout brain and spinal cord with rescue of disease hallmarks and neuronal loss. We will study rAAV vector serotypes (eg 2/1 and 2/rh.10) for optimally safe and effective expression; preclinical research will be dovetailed with patient evaluation for study enrollment. Individual patient outcomes will be assessed longitudinally using neurological, neuropsychiatric and MR studies with life-quality scoring and compared with the natural disease course.
Planned Impact
Outcomes and Impact
Beneficiaries: Successful conduct of the clinical trial of gene therapy with the desired safety and efficacy outcomes would directly benefit the participants, (patients with Tay-Sachs and Sandhoff disease and their immediate families and carers). Therapeutic efficacy in terms of arrest or reversal of neurodegeneration would be a powerful incentive for participation by other stricken patients in the UK and abroad.
Indirect beneficiaries: Patients, neuroscientists and other investigators and companies seeking to access therapeutic expertise in other brain diseases, particularly those caused by lysosomal defects, using gene transfer technology.
Proposed next steps: Indications of therapeutic success in these devastating disorders will resonate widely and stimulate interest from the European Commission through the European Brain Council and numerous emerging Biotech companies with dormant patents and interests in clinical gene therapy - in some cases including the brain as a target. The support of the Medical Research Council in the UK, University Development Offices through this application will provide a platform to secure interest from leading gene therapy companies for phase III studies and the continuing market development, to which they are committed.
Role of commercial organization: As their patents in common disorders expire, several large-Pharma companies with near-empty discovery portfolios are now taking on 'niche-busting' initiatives in rare diseases, including lysosomal diseases - research into metabolic medicine and lysosomal disorders has recently attracted substantial investment from global companies such as Pfizer, Sanofi and Glaxosmithkline pharmaceuticals. By this means also there is material investment in metabolic expertise and rare neurodegenerative disorders - with the profitability of orphan biologics and improved stratagems for human gene therapy, the field is becoming more attractive for pharmaceutical partners.The commercial private sector may thus benefit from the investment opportunity as set out. Policy-makers seeking fresh perspectives on emerging technologies would also benefit from the outcomes of this research, which would also enhance perceptions of inventiveness and scientific originality in the UK - and is also likely to attract international notice.
Long-term European development
The European Brain Council (EBC) is formed by European organisations in neurology and other clinical neurosciences as well as patient organisations and industry; the Brains for Brains Foundation is affiliated. Recently the applicant presented a case for the exceptional importance of neurodegenerative lysosomal diseases at a well-attended convention of MEPs. The need for early diagnosis and improved commitment to research was fully accepted. With the conduct of the phase I/II trial in 2014, the proposed research coincides with the European Year of the Brain. The EBC, which involves all membership organisations in its projects and activities, may also be approached to support the project for long-term investment and comprehensive development during its three-year campaign. The Year of the Brain project has gathered momentum rapidly, with enthusiastic support from the European Parliament and member states. The proposed gene therapy research and its envisaged clinical development is well-positioned to take advantage of the investment opportunities and awareness promoted through the European Year of the Brain campaign. The campaign is motivating further support and research into vital neuroscience initiatives and we contend that the successful conduct of the research programme in Tay-Sachs and Sandhoff diseases is likely to be seen for its iconic significance in the field. Furthermore, it will emphasise the need for realistic development of clinical gene therapy - particularly its more general application within the portfolio of UK medical research .
Beneficiaries: Successful conduct of the clinical trial of gene therapy with the desired safety and efficacy outcomes would directly benefit the participants, (patients with Tay-Sachs and Sandhoff disease and their immediate families and carers). Therapeutic efficacy in terms of arrest or reversal of neurodegeneration would be a powerful incentive for participation by other stricken patients in the UK and abroad.
Indirect beneficiaries: Patients, neuroscientists and other investigators and companies seeking to access therapeutic expertise in other brain diseases, particularly those caused by lysosomal defects, using gene transfer technology.
Proposed next steps: Indications of therapeutic success in these devastating disorders will resonate widely and stimulate interest from the European Commission through the European Brain Council and numerous emerging Biotech companies with dormant patents and interests in clinical gene therapy - in some cases including the brain as a target. The support of the Medical Research Council in the UK, University Development Offices through this application will provide a platform to secure interest from leading gene therapy companies for phase III studies and the continuing market development, to which they are committed.
Role of commercial organization: As their patents in common disorders expire, several large-Pharma companies with near-empty discovery portfolios are now taking on 'niche-busting' initiatives in rare diseases, including lysosomal diseases - research into metabolic medicine and lysosomal disorders has recently attracted substantial investment from global companies such as Pfizer, Sanofi and Glaxosmithkline pharmaceuticals. By this means also there is material investment in metabolic expertise and rare neurodegenerative disorders - with the profitability of orphan biologics and improved stratagems for human gene therapy, the field is becoming more attractive for pharmaceutical partners.The commercial private sector may thus benefit from the investment opportunity as set out. Policy-makers seeking fresh perspectives on emerging technologies would also benefit from the outcomes of this research, which would also enhance perceptions of inventiveness and scientific originality in the UK - and is also likely to attract international notice.
Long-term European development
The European Brain Council (EBC) is formed by European organisations in neurology and other clinical neurosciences as well as patient organisations and industry; the Brains for Brains Foundation is affiliated. Recently the applicant presented a case for the exceptional importance of neurodegenerative lysosomal diseases at a well-attended convention of MEPs. The need for early diagnosis and improved commitment to research was fully accepted. With the conduct of the phase I/II trial in 2014, the proposed research coincides with the European Year of the Brain. The EBC, which involves all membership organisations in its projects and activities, may also be approached to support the project for long-term investment and comprehensive development during its three-year campaign. The Year of the Brain project has gathered momentum rapidly, with enthusiastic support from the European Parliament and member states. The proposed gene therapy research and its envisaged clinical development is well-positioned to take advantage of the investment opportunities and awareness promoted through the European Year of the Brain campaign. The campaign is motivating further support and research into vital neuroscience initiatives and we contend that the successful conduct of the research programme in Tay-Sachs and Sandhoff diseases is likely to be seen for its iconic significance in the field. Furthermore, it will emphasise the need for realistic development of clinical gene therapy - particularly its more general application within the portfolio of UK medical research .
Organisations
Publications
Pavlova EV
(2013)
B cell lymphoma and myeloma in murine Gaucher's disease.
in The Journal of pathology
Lecommandeur E
(2020)
Decrease in Myelin-Associated Lipids Precedes Neuronal Loss and Glial Activation in the CNS of the Sandhoff Mouse as Determined by Metabolomics.
in Metabolites
Cox T
(2015)
ENCORE, a randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients stabilized on enzyme replacement therapy: 24-month results
in Molecular Genetics and Metabolism
Cox T
(2016)
Encyclopedia of Cell Biology
Shemesh E
(2015)
Enzyme replacement and substrate reduction therapy for Gaucher disease.
in The Cochrane database of systematic reviews
Cox TM
(2015)
Gaucher disease and comorbidities: B-cell malignancy and parkinsonism.
in American journal of hematology
Description | I was honoured by the National Tay-Sachs and Allied Diseases Association (NTSAD) at their 60th Anniversary celebration. This is the largest and oldest charity of its kind dedicated to Tay-Sachs and Sandhoff diseases |
Geographic Reach | North America |
Policy Influence Type | Contribution to a national consultation/review |
Impact | My attendance at this event held by the charity seems to have led to donations much in excess of the target ($100,000) and was $127000. During the event I met donors and Trustees and advised a panel of gene therapy vector experts, neurosurgeons, veterinarian researchers, patients and clinicians to assist in the design, selection and monitoring of a gene therapy clinical trial |
URL | https://www.ntsad.org/index.php/2017-imagine-believe |
Description | Biomedical Research Centre |
Amount | £114,300,000 (GBP) |
Organisation | National Institute for Health Research |
Sector | Public |
Country | United Kingdom |
Start | 03/2017 |
End | 03/2022 |
Description | MRC DPFS |
Amount | £213,410 (GBP) |
Funding ID | MR/K025570/1 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 09/2018 |
End | 09/2020 |
Title | Orphan Drug Designation for Gene Therapy CAM-GM201 and CAM-GM202 from FDA; EMA with designation as an advanced medicinal therapy and with the granting of eligibility for a Pediatric Priority Review Voucher from the FDA |
Description | Part of our Intellectual Property development strategy - and with protection as well as potentially considerable financial value |
IP Reference | |
Protection | Protection not required |
Year Protection Granted | 2017 |
Licensed | No |
Impact | Investor interest |
Title | Amethist Clinical trial in late-onset GM2 gangliosidosis |
Description | A Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-onset GM2 Gangliosidosis (Tay-Sachs Disease and Sandhoff Disease) Together With a Separate Basket for Juvenile/Adolescent Late-onset GM2 Gangliosidosis and Ultra-rare Diseases Within the Same and Similar Glucosylceramide-based Sphingolipid Pathway Started June 29 2020 primary completion date first Quarter 2024 |
Type | Therapeutic Intervention - Drug |
Current Stage Of Development | Late clinical evaluation |
Year Development Stage Completed | 2020 |
Development Status | Under active development/distribution |
Clinical Trial? | Yes |
UKCRN/ISCTN Identifier | JPRN-jRCT2021200023 |
Impact | This agent is a brain-penetrant substrate-reducing drug of general potential efficacy in neurodegenerative glycosphingolipidoses in which lysosomal recycling of gluco-series sphingolipids is impaired. It offers opportunities to arrest or event reverse the progression of these relentless conditions and may serve ultimately as a adjunct to gene transfer in severe acute disorders in this class. The agent is in active investigation in late-onset GM2 gangliosidosis as well as Gaucher disease and Fabry disease - as well as Juvenile/Adolescent Late-onset GM2 Gangliosidosis up to 16 years of age; GM1 gangliosidosis and sialidosis. The drug has been found safe in healthy control subjects and there are phase 2 data over 3 years published in Fabry disease with signs of biochemical target engagement. (See also in type 3 neuronopathic Gaucher disease in association with GAUCHERITE study) TM Cox is a PI of this trial in the UK. |
URL | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=406512 |
Title | CAM-GM2 gene therapy vectors for GM2 gangliosidosis |
Description | recombinant Adeno-Associated Gene therapy vectors for intracranial administration in human GM2 gangliosidosis |
Type | Therapeutic Intervention - Cellular and gene therapies |
Current Stage Of Development | Refinement. Non-clinical |
Year Development Stage Completed | 2017 |
Development Status | Actively seeking support |
Impact | Outcome of COMP - positive opinion EMA/OD/182/17 |
URL | http://www.ema.europa.eu/ema/index.jsp?curl=pages/news_and_events/...listing/ |
Title | Substrate Reduction therapy |
Description | Substrate reduction therapy with a unique biosynthetic inhibitor of glycosphinglipid formation able to penetrate the CNS and orally active. Here applied in the Amethist trial with venglustat for late-onset and juvenile GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) as well as GM1 glangliosidosis Builds on earlier trial proof-of-principle of miglustat in type 1 Gaucher disease published Lancet 2000 - approved worldwide for Gaucher disease in 2003 and for Niemann-Pick diseasse type C in 2007). Novel class venglutat also being explored in LEAP Study in neuronpathic Gaucher disease. |
Type | Therapeutic Intervention - Drug |
Current Stage Of Development | Early clinical assessment |
Year Development Stage Completed | 2020 |
Development Status | Under active development/distribution |
Impact | LEAP trial Safety and early efficacy in neuronopathic Gaucher disease demonstrated. Two year data emerging and being submitted for publication in full. I am PI in trial and encouraged application to cognate diseases such a late-onet GM2 gangliosidosis - Tay-sachs and Sandhoff disease principally. This is happening Amethist trial (I m a PI) |
URL | https://clinicaltrials.gov/ct2/show/NCT02843035 |
Company Name | Cambridge Gene Therapy |
Description | Cambridge Gene Therapy develops biotechnologies, designed to treat lysosomal diseases, specialising in gene therapy treatments. |
Year Established | 2017 |
Impact | Considerable interest from investors local and international. Due dilligence searches have been met and an IP strategy has been developed. A final product development plan for the lead clinical candidate is now being prepared. Novel components critical for development of gene therapy within new regulatory requirements for clinical use are available for licensing from the University generated. |
Description | European Tay-Sachs Family Conference, Monsee, Austria |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | Yes |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Professor Cox's talk sparked interest and heightened awareness of lysosomal disorders, especially regarding Tay-Sachs and Sandhoff diseases Parents of young children sufferers were kept abreast of Professor Cox's current ongoing research into Tay-Sachs and Sandhoff diseases and were made aware of his current and future plans for gene therapy |
Year(s) Of Engagement Activity | 2013 |
Description | Gordon Research Conference Inaugural Keynote Lecture |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | Yes |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | The lecture sparked great interest and enthusiasm Professor Cox was approached by many attending professionals requesting further information |
Year(s) Of Engagement Activity | 2011 |
Description | Gordon research conference - lysosomal diseases |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Study participants or study members |
Results and Impact | GRS - The purpose was educational engagement for basic and clinical scientists in lysosomal diseases: Decoding Lysosomal Signals to Understand Disease Mechanisms and Define New Therapeutic Strategies for Lysosomal Storage Disorders. This Gordon Research Seminar attracted 50 participants - all slots filled. I delivered the opening keynote lecture. At the subsequent 2017 GRC (Gordon Research Conference) ); a paper on upcoming new data was presented from our institution describing a unique new disease due to human mutations in the endosomal-lysosomal related protein of the HOPS complex, VPS 33A. A research poster by my senior colleague describing strong modifier effects related to genetic background in a severe neurological disease in mice (twitcher 2J and twitcher 5J) that accurately model human Krabbe disease. I delivered an opening translational lecture on therapeutics in sphingolipidoses and chaired a half-day session on lysosomal therapeutics. al our contributions appeared to be well received. Finally I was a discussion leader in a half-day session dedicated to therapeutic advances in this field. Later I was proposed and after a majority democratic vote, elected Vice-Chair to be followed by Chair of the GRCs in 2019 and 2021. I also delivered a keynote lecture at the 2016 Zing conference in Cambridge on Lysosomal diseases to a mixed professional and biochemical audience. |
Year(s) Of Engagement Activity | 2011,2013,2015,2017 |
URL | https://www.grc.org/home.aspx |
Description | Hunterian Oration |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | Yes |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | The lecture sparked huge interest Professor Cox's lecture entitled: 'Rising in the East' sparked huge interest and it was indeed an honour to be invited to give the Hunterian Oration |
Year(s) Of Engagement Activity | 2012 |
Description | IBMC Seminar, Porto, Portugal |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | Yes |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Much discussion was forthcoming The talk was greatly appreciated and evoked much discussion |
Year(s) Of Engagement Activity | 2014 |
Description | Loire Valley meeting, Chateau des Grotteaux, France |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | Yes |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Discussion was lively and thought-provoking Huge interest and discussions evoked |
Year(s) Of Engagement Activity | 2014 |
Description | MPS Congress, Madrid, Spain |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | Yes |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Professor Cox's talk sparked interest, as well as questions and discussion afterwards Interest and awareness were heightened |
Year(s) Of Engagement Activity | 2013 |
Description | Sheep Veterinary Society, Redworth Hall Hotel, Darlington |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | Yes |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | The talk attracted interest and allowed all to share their views Professor Cox has been invited to write a Paper by the Sheep Veterinary Society |
Year(s) Of Engagement Activity | 2014 |
Description | Tay-Sachs Family Conference, Disneyland, Paris |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | Yes |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | The meeting inspired and gave hope to parents whose children are suffering from Tay-Sachs, Sandhoff and other rare lysosomal disorders Inspiration and hope was instilled in parents and other family members of children suffering from these rare lysosomal conditions |
Year(s) Of Engagement Activity | 2014 |
Description | Un Conte de deux Cites (Cle du Lysosome Award) |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | Yes |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Professor Cox's talk sparked huge interest and admiration for his research work into lysosomal disorders Much awareness was raised into lysosomal disorders |
Year(s) Of Engagement Activity | 2013 |
Description | University of Cambridge Department of Medicine Research Day |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | Yes |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | The talk sparked questions and raised awareness New insights into Gaucher disease were shared |
Year(s) Of Engagement Activity | Pre-2006,2006,2007,2008,2009,2010,2011,2012,2013,2014 |
Description | Vaincre les Maladies Lysosomales (VML Society), College de France, Paris |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | Yes |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Professor Cox's talk heightened awareness and sparked interest and questions Professor Cox was warmly received and congratulated on his presentation |
Year(s) Of Engagement Activity | 2013 |