Contributions
Abstract: PB2399
Type: Publication Only
Background
Gaucher Disease (GD) is a rare disease, with 75% of GD patients being diagnosed and managed by hematologists. In the majority of cases the appropriate diagnosis is established incidentally, following a bone marrow examination, as part of the investigation process for unexplained splenomegaly, thrombocytopenia or anemia.
Despite this, many of the common causes of misdiagnosis of GD when a bone marrow examination is not performed, are hematological in nature, with hematological malignancy, idiopathic thrombocytopenia and anemia of chronic disease being the more likely misdiagnosis.
Aims
If we are to truly find out what is happening in GD and address any possible GD health disparities world-wide, we need to know and understand where we are with regards to current treatment and care services for GD. If these services fall short, how can we improve their effectiveness and thus improve the quality of service that is given.
Methods
This new research initiative will provide a real-world picture of treatment and outcomes by studying clinical characteristics, disease-management and relevant clinical outcomes i.e. determine what is happening in the countries surveyed and pinpoint reasons for this. Moreover, by integrating the essential data from all resources we will create recommendations for the appropriate patient data collection even for local registries outside Europe, thus harmonizing diagnostic and registration strategies and contributing to better scientific communication and collaboration worldwide.
This research initiative will be devised and conducted, in order to determine whether consecutive patients with known or suspected GD during a hospital admission were being investigated and treated in accordance with guidelines. It will also provides an opportunity to obtain comparative data on the characteristics and outcome of patients with GD, in terms of comparative data about GD rates, morbidity, mortality and survival data after treatment.
Current local and national registries will be used as a platform to collect detailed clinical information relevant to clinical practice and thus create a more clinically orientated International GD Registry.
Results
This future important research initiative will help us develop a truly International Prospective Registry for GD that can be used to provide a clear picture of the current world-wide management of GD. This will help us to:
- Promote research of GD and
- Develop both practical and clinical research recommendations in GD.
- Develop educational initiatives to allow the sharing of knowledge and best practice.
- Create a dataset of preserved biological material, potentially available for research purposes.
Conclusion
We aim to remove any world-wide GD health disparities by building up a partnership of all sectors involved in GD care i.e. multi-disciplinary teams, medical societies and co-op groups, politicians, the pharmaceutical industry, GD patient groups, the private sector and the wider community of people involved in the multifaceted aspects and phases of GD care.
Session topic: 36. Quality of life, palliative care, ethics and health economics
Keyword(s): Gaucher disease
Abstract: PB2399
Type: Publication Only
Background
Gaucher Disease (GD) is a rare disease, with 75% of GD patients being diagnosed and managed by hematologists. In the majority of cases the appropriate diagnosis is established incidentally, following a bone marrow examination, as part of the investigation process for unexplained splenomegaly, thrombocytopenia or anemia.
Despite this, many of the common causes of misdiagnosis of GD when a bone marrow examination is not performed, are hematological in nature, with hematological malignancy, idiopathic thrombocytopenia and anemia of chronic disease being the more likely misdiagnosis.
Aims
If we are to truly find out what is happening in GD and address any possible GD health disparities world-wide, we need to know and understand where we are with regards to current treatment and care services for GD. If these services fall short, how can we improve their effectiveness and thus improve the quality of service that is given.
Methods
This new research initiative will provide a real-world picture of treatment and outcomes by studying clinical characteristics, disease-management and relevant clinical outcomes i.e. determine what is happening in the countries surveyed and pinpoint reasons for this. Moreover, by integrating the essential data from all resources we will create recommendations for the appropriate patient data collection even for local registries outside Europe, thus harmonizing diagnostic and registration strategies and contributing to better scientific communication and collaboration worldwide.
This research initiative will be devised and conducted, in order to determine whether consecutive patients with known or suspected GD during a hospital admission were being investigated and treated in accordance with guidelines. It will also provides an opportunity to obtain comparative data on the characteristics and outcome of patients with GD, in terms of comparative data about GD rates, morbidity, mortality and survival data after treatment.
Current local and national registries will be used as a platform to collect detailed clinical information relevant to clinical practice and thus create a more clinically orientated International GD Registry.
Results
This future important research initiative will help us develop a truly International Prospective Registry for GD that can be used to provide a clear picture of the current world-wide management of GD. This will help us to:
- Promote research of GD and
- Develop both practical and clinical research recommendations in GD.
- Develop educational initiatives to allow the sharing of knowledge and best practice.
- Create a dataset of preserved biological material, potentially available for research purposes.
Conclusion
We aim to remove any world-wide GD health disparities by building up a partnership of all sectors involved in GD care i.e. multi-disciplinary teams, medical societies and co-op groups, politicians, the pharmaceutical industry, GD patient groups, the private sector and the wider community of people involved in the multifaceted aspects and phases of GD care.
Session topic: 36. Quality of life, palliative care, ethics and health economics
Keyword(s): Gaucher disease