DIAGNOSTIC OF PATIENTS WITH SELDOM INBORN ERRORS OF THE IMMUNE SYSTEM
Published on 28 September 2018
Germany
Leipzig
This is the good practice's implementation level. It can be national, regional or local.
About this good practice
The St. Georg Hospital Leipzig runs a specialized department for immune defects (Immunodeficiency Center Leipzig, IDCL) for patients with uncertain symptoms offering diagnostics and therapy. Its capacity is currently limited to 400 patients of all age groups from three countries (Saxony, Thuringia and Saxony-Anhalt).
Together with the Division of Clinical Immunology of the Karoliska Institutet in Stockholm, the IDCL developed a newborn screening for severe PID, characterized by T and/or B cell lymphopenia. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) are measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity.
This best practice shows two obvious problems: only a few patients are identified and treated and most patients remain hidden and cause immense costs. In addition to the existing project, an extension could address the known weaknesses and awareness by providing more information for patients and physicians and by implementing rather simple but effective ICT. Specific tests based on an innovative early detection algorithm would be implemented via tablets and performed with medical practices or other institutions in order to identify patients earlier with suspected or confirmed rare immunological diseases. This extension will provide the means to widely establish routine procedures.
Together with the Division of Clinical Immunology of the Karoliska Institutet in Stockholm, the IDCL developed a newborn screening for severe PID, characterized by T and/or B cell lymphopenia. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) are measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity.
This best practice shows two obvious problems: only a few patients are identified and treated and most patients remain hidden and cause immense costs. In addition to the existing project, an extension could address the known weaknesses and awareness by providing more information for patients and physicians and by implementing rather simple but effective ICT. Specific tests based on an innovative early detection algorithm would be implemented via tablets and performed with medical practices or other institutions in order to identify patients earlier with suspected or confirmed rare immunological diseases. This extension will provide the means to widely establish routine procedures.
Resources needed
The current project has little cost (yet undetermined) for initial equipment and staff. In addition, between 1000 and 2000 EUR running costs per patient are needed. For the planned project extension a budget of 1 million EUR per specialized department per year has been estimated.
Evidence of success
The progress achieved and research results of PID-screening in newborns have led to the development of a concept for a national pilot project in which congenital immune deficiencies are screened in newborns. The idea has been submitted to the Federal Joint Committee (G-BA) for approval.
Potential for learning or transfer
Because of its effectiveness in identifying patients with rare immunological diseases and the established processes, it could work as best practice in other European states.
As of now, it is necessary in Europe that the referring physicians are informed about immunological diseases in general and know about the few existing specialized departments where patients can be examined.
As of now, it is necessary in Europe that the referring physicians are informed about immunological diseases in general and know about the few existing specialized departments where patients can be examined.
Good practice owner
Organisation
Immunodeficiency Centre Leipzig
Germany
Leipzig
Contact
project coordinator