Although there is a substantial body of literature on the diagnostic procedures and therapeutic options in immune cytopenias in children, there is a growing number of underlying monogenetic diseases being recognized each year, distributed among immunological, hematological, and inflammatory or metabolic diseases, which require specific or allow targeted treatment. In addition to the fact that guidelines always lag behind due to the nature and requirements of evidence-based consensus finding, guidelines are not always adhered to, whether intentionally, based on local experience, or unintentionally, due to the limited number of patients cared for in each center, or based on other factors such as availability of rarely needed diagnostic tests or drugs. Lastly, the majority of the existing clinical recommendations are designed to facilitate the hematological diagnosis and management, without the aim of a prospective translational scientific quest. Thus, there is a clear clinical need to include patients with severe immune cytopenias into a clearly structured prospective registry study.
The aim for the present project is, to combine a platform for a facilitated and accelerated diagnostic workup, covering all currently known hematologically relevant immune deficiencies and most other inborn errors that are associated with or within the differential diagnosis of immune cytopenia, with the generation of a network and database of patients who could benefit from translational accompanying studies (e.g. for specific biomarkers of genetic causes, epigenetic immune modulators, etc.) and extended routine diagnostic procedures. For Austria, the availability of all diagnostic tests suggested is secured. If genetic tests are needed, they will be recommended at an appropriate step throughout the diagnostic algorithm, and will be performed on the basis of a medical, not a scientific indication (with a separate human genetic informed consent). Genetic analyses are not part of SIC-reg.org per se, and they will be performed through the locally caring center, wherever it is most appropriate and practical for the respective patient.
In addition to information material provided at the website www.sic-reg.org designed both for patients, parents, and medical personnel at participating centers, other useful tools such as a diagnostic and a therapeutic algorithm based on published works will be provided, patient emergency cards for severe cytopenias for their private use will be available for download from the study website, and regular patient boards will be held (see below).
Regular face-to-face meetings within the steering team at the SIC-Reg.org study center Graz will be held, and eventually extended by conference calls to local physicians. The patient boards will have a predominantly academic consultant function to ensure the data integrity of the registry and will be held by the study PI with local collaborators (Research Unit for Pediatric Hematology and Immunology, Medical University Graz) with regular review of patients’ clinical courses and laboratory data. They are scheduled bimonthly or more frequently, depending on the number of newly registered or undiagnosed / unresolved patients. A patient board may also be scheduled on request by the local physician. Relevant results of such meetings will be reported by the PI or another member of the board to a representative of each participating center, e.g. by a telephone conference. Any conclusions from SIC patient boards will bear a merely academic advisory function without medically recommending character or responsibility and will have no stratifying effect for the study participant in any way (diagnostic or therapeutic).