Contributions
Abstract: PB2375
Type: Publication Only
Background
The Department of Orphan diseases of the National Research Center for Hematology has gained a unique experience of treating patients (pts) with Gaucher disease (GD) in the last 10 years. A total of 286 Gaucher pts have been examined and are under follow-up in the Department which constitutes 94,4 % of all diagnosed pts in the Russian Federation. Establishment of the national Gaucher registry is crucial for ensuring data integrity, enabling systematization and analysis of clinical data as well as continuous monitoring and long-term follow-up of the pts.
Aims
Demonstrate advantages of the centralized approach to management and monitoring of the pts with orphan diseases.
Methods
GD is an autosomal recessive lysosomal storage disease, caused by deficiency of the enzyme glucocerebrosidase (GBA), required for the degradation of glycosphingolipids. GBA deficiency results in accumulation of its immediate substrates, glucosylceramide and glucosylsphingosine, predominately in lysosomes of cells of the reticuloendothelial system. Clinical manifestations include hepatosplenomegaly, cytopenias and bone involvement. Historically managed by splenectomy, transfusions and orthopaedic surgery, the development of specific therapy in the form of intravenous enzyme replacement therapy (ERT) in the 1990s has resulted in dramatic improvements in hematologic and visceral disease and provided the possibility to prevent the development of debilitating bone complications. GD is an extremely heterogeneous condition with severe early manifestations in some patients, whereas others may exhibit a lifelong asymptomatic course. Thus, an individualized approach and a multidisciplinary team of specialists are needed to assess the severity of the disease and provide an adequate treatment and monitoring. Therefore, all adult Gaucher pts are examined and followed up in the National Research Center for Hematology.
From 2007 to 2018, a total of 286 Gaucher pts have been examined and are under follow-up in the Department of Orphan diseases of the National Research Center for Hematology. 99% of these pts have been receiving pathogenetic treatment for the period of 1 – 15 yrs. The development and implementation of the national registry allowed us to create a platform for the registration of the whole population of adult Gaucher pts in the Russian Federation. The registry captures detailed laboratory, clinical and radiological data of all pts obtained both before the initiation of the treatment and on treatment, thus representing a convenient tool for comprehensive data analysis.
Results
The data accumulated in the national Gaucher registry allowed us to analyze the long-term results of splenectomy in Gaucher pts which was the primary treatment option in the pre-ERT era. It was demonstrated that splenectomy leads to a regress of cytopenia, however, at the same time it is the risk factor for severe bone involvement.
The priority field of our further research is the development of optimal, scientifically and economically justified treatment regimen in Gaucher pts who achieved treatment goals.
Conclusion
Centralized examination and management of Gaucher pts in the Federal Research Center enabled us to accumulate, organize and systematize all available data on the patient population of the Russian Federation. The national registry represents a valuable tool for epidemiological research and provides a data source to carry out the analysis of both short and long-term results of the pathogenetic treatment.
Session topic: 36. Quality of life, palliative care, ethics and health economics
Keyword(s): Enzyme replacement therapy, epidemiology, Gaucher disease, Population
Abstract: PB2375
Type: Publication Only
Background
The Department of Orphan diseases of the National Research Center for Hematology has gained a unique experience of treating patients (pts) with Gaucher disease (GD) in the last 10 years. A total of 286 Gaucher pts have been examined and are under follow-up in the Department which constitutes 94,4 % of all diagnosed pts in the Russian Federation. Establishment of the national Gaucher registry is crucial for ensuring data integrity, enabling systematization and analysis of clinical data as well as continuous monitoring and long-term follow-up of the pts.
Aims
Demonstrate advantages of the centralized approach to management and monitoring of the pts with orphan diseases.
Methods
GD is an autosomal recessive lysosomal storage disease, caused by deficiency of the enzyme glucocerebrosidase (GBA), required for the degradation of glycosphingolipids. GBA deficiency results in accumulation of its immediate substrates, glucosylceramide and glucosylsphingosine, predominately in lysosomes of cells of the reticuloendothelial system. Clinical manifestations include hepatosplenomegaly, cytopenias and bone involvement. Historically managed by splenectomy, transfusions and orthopaedic surgery, the development of specific therapy in the form of intravenous enzyme replacement therapy (ERT) in the 1990s has resulted in dramatic improvements in hematologic and visceral disease and provided the possibility to prevent the development of debilitating bone complications. GD is an extremely heterogeneous condition with severe early manifestations in some patients, whereas others may exhibit a lifelong asymptomatic course. Thus, an individualized approach and a multidisciplinary team of specialists are needed to assess the severity of the disease and provide an adequate treatment and monitoring. Therefore, all adult Gaucher pts are examined and followed up in the National Research Center for Hematology.
From 2007 to 2018, a total of 286 Gaucher pts have been examined and are under follow-up in the Department of Orphan diseases of the National Research Center for Hematology. 99% of these pts have been receiving pathogenetic treatment for the period of 1 – 15 yrs. The development and implementation of the national registry allowed us to create a platform for the registration of the whole population of adult Gaucher pts in the Russian Federation. The registry captures detailed laboratory, clinical and radiological data of all pts obtained both before the initiation of the treatment and on treatment, thus representing a convenient tool for comprehensive data analysis.
Results
The data accumulated in the national Gaucher registry allowed us to analyze the long-term results of splenectomy in Gaucher pts which was the primary treatment option in the pre-ERT era. It was demonstrated that splenectomy leads to a regress of cytopenia, however, at the same time it is the risk factor for severe bone involvement.
The priority field of our further research is the development of optimal, scientifically and economically justified treatment regimen in Gaucher pts who achieved treatment goals.
Conclusion
Centralized examination and management of Gaucher pts in the Federal Research Center enabled us to accumulate, organize and systematize all available data on the patient population of the Russian Federation. The national registry represents a valuable tool for epidemiological research and provides a data source to carry out the analysis of both short and long-term results of the pathogenetic treatment.
Session topic: 36. Quality of life, palliative care, ethics and health economics
Keyword(s): Enzyme replacement therapy, epidemiology, Gaucher disease, Population