The International Gaucher Alliance (IGA) today announced it has entered into a Letter of Intent with Kantar, to manage the day to day running of the IGA’s global neuronopathic Gaucher disease patient registry. The registry will support a better understanding of the natural history of the disease, correlate global phenotypes and genotypes, validate new endpoints/outcomes and generate a data source that can be used for both Regulatory and Health Technology Assessments evaluation of emerging drugs for neuronopathic Gaucher disease.
The registry will collect patient reported and clinical data for patients with neuronopathic Gaucher disease, ultra-rare subgroups of Gaucher disease, a lysosomal storage disorder that affects 1 in 100,000 of the general population. Neuronopathic Gaucher disease initially thought to represent approx. 5-10% of the overall Gaucher community is now known to be much more prevalent in certain parts of the world including the middle east and Asia.
A number of clinical trials are currently underway in neuronopathic Gaucher disease with other companies interested in this rare, heterogenous disease that presents in the first two years of life and which can present severe neurological symptoms such as seizure in early life and a premature death as well as mild neurological symptoms in other patients who live well into their adult life. Thus, this is a challenging disease for the development of new treatments to identify endpoints that will measure efficacy for regulatory approval and reimbursement.
In 2019 the IGA undertook phase I of the registry (in partnership with Aparito), a feasibility study to understand the needs of the community for a global registry working in partnership with patients, carers, Gaucher clinical experts and the pharmaceutical industry. This 21 week project involved patient/carers focus groups; one to one interviews and online surveys; clinical roundtable meetings and an online Delphi study to define data fields and a meeting with the four pharmaceutical companies that supported the phase I study to identify what they would want out of a global registry. All this information formed phase I report which was shared with all those stakeholders involved in phase I and will shape the registry development going forward.
“We are delighted that our vision of a global registry is being taken forward with the patient community as the lead. It will enable us to collect comparable data, mindful of challenges in different countries of access to tests and equipment, to enhance knowledge, improve patient care and drive the research agenda in our community with the patient at the centre. After many years of little interest in the neuronopathic community we now see potential new therapies in development and disease specific patient reported outcome measures being developed. This gives hope to our community that lives will be saved, and families hope for a future for their children becoming a reality.” Tanya Collin-Histed, CEO International Gaucher Alliance
“The unmet need and burden for patients and families associated with neuronopathic Gaucher disease is significant. But there is hope for the Gaucher community as the life sciences industry is currently developing many new treatments that have the potential of changing the lives of patients suffering from neuronopathic Gaucher,” said Michael Fronstin, Global Head of Innovation, Real World Evidence, for Kantar. “We’re enthusiastic about our partnership with the International Gaucher Alliance and looking forward to working with them and industry to bring these new therapies to patients as soon as possible.”
ABOUT THE INTERNATIONAL GAUCHER ALLIANCE (IGA)
The IGA is an international umbrella group representing the interest of Gaucher patients and those of non-for-profit Gaucher patient groups as well as rare disease groups throughout the world.
The registry will collect patient reported and clinical data for patients with neuronopathic Gaucher disease, ultra-rare subgroups of Gaucher disease, a lysosomal storage disorder that affects 1 in 100,000 of the general population. Neuronopathic Gaucher disease initially thought to represent approx. 5-10% of the overall Gaucher community is now known to be much more prevalent in certain parts of the world including the middle east and Asia.
A number of clinical trials are currently underway in neuronopathic Gaucher disease with other companies interested in this rare, heterogenous disease that presents in the first two years of life and which can present severe neurological symptoms such as seizure in early life and a premature death as well as mild neurological symptoms in other patients who live well into their adult life. Thus, this is a challenging disease for the development of new treatments to identify endpoints that will measure efficacy for regulatory approval and reimbursement.
In 2019 the IGA undertook phase I of the registry (in partnership with Aparito), a feasibility study to understand the needs of the community for a global registry working in partnership with patients, carers, Gaucher clinical experts and the pharmaceutical industry. This 21 week project involved patient/carers focus groups; one to one interviews and online surveys; clinical roundtable meetings and an online Delphi study to define data fields and a meeting with the four pharmaceutical companies that supported the phase I study to identify what they would want out of a global registry. All this information formed phase I report which was shared with all those stakeholders involved in phase I and will shape the registry development going forward.
“We are delighted that our vision of a global registry is being taken forward with the patient community as the lead. It will enable us to collect comparable data, mindful of challenges in different countries of access to tests and equipment, to enhance knowledge, improve patient care and drive the research agenda in our community with the patient at the centre. After many years of little interest in the neuronopathic community we now see potential new therapies in development and disease specific patient reported outcome measures being developed. This gives hope to our community that lives will be saved, and families hope for a future for their children becoming a reality.” Tanya Collin-Histed, CEO International Gaucher Alliance
“The unmet need and burden for patients and families associated with neuronopathic Gaucher disease is significant. But there is hope for the Gaucher community as the life sciences industry is currently developing many new treatments that have the potential of changing the lives of patients suffering from neuronopathic Gaucher,” said Michael Fronstin, Global Head of Innovation, Real World Evidence, for Kantar. “We’re enthusiastic about our partnership with the International Gaucher Alliance and looking forward to working with them and industry to bring these new therapies to patients as soon as possible.”
ABOUT THE INTERNATIONAL GAUCHER ALLIANCE (IGA)
The IGA is an international umbrella group representing the interest of Gaucher patients and those of non-for-profit Gaucher patient groups as well as rare disease groups throughout the world.