Autoimmune Hemolytic Anemia, Evans Syndrome, Immune Thrombocytopenia, Primary Immunodeficiency
Conditions
Keywords
pancytopenia, aplastic anemia, myelodysplastic syndrome, primary immunodeficiency, immune dysregulation, autoimmune cytopenia
Brief summary
Prospective registry study for children and young adults with severe immune cytopenias (persisting/chronic immune thrombocytopenia, autoimmune hemolytic anemia, and Evans syndrome) to improve the management, facilitate the differential diagnostic work-up, and document the clinical course under various treatments. Time points: at inclusion, after 6 months, after 12 months, then yearly up to 4 years after inclusion. No intervention, mere observation and documentation. Guided pre-inclusion (differential) diagnostic work-up.
Detailed description
The study aims to improve the management and care of patients with severe immune cytopenias, to identify underlying causes of severe immune cytopenias and to develop a strategy for early treatment stratification based on a standardized diagnostic algorithm, potentially supported by biomarker analyses and (off study) genetic analyses, where clinically indicated. Primary Goal: Rapid detection of underlying causes of severe immune cytopenias with the aid of a structured diagnostic approach and access to a clinical care network of the participating centers, allowing early treatment stratification Secondary Goals: * Collection of data about epidemiology of rare diseases * Systemic documentation of response rates to various treatments * Identification of biomarkers and modifiers of immune tolerance * Collection of data about the usage of novel/experimental therapeutic agents * Documentation of physician-reported outcome measures/performance scores * Consultation of the caring physicians through a regular SIC-Reg board There will be no additional venous punctures or investigational time points. At clinical visits around planned study time points, additional blood parameters and stool specimen will be obtained. The current clinical management follows international guidelines, which are summarized in the study documents but do not represent part of the study (no diagnostic or therapeutic investigational arm).
Interventions
DIAGNOSTIC_TESTpotential biomarkers
facs analysis, microbiome analysis
Sponsors
Medical University of Graz
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Months to 25 Years
Healthy volunteers
No
Inclusion criteria
* Autoimmune hemolytic anemia (AIHA) * Evans syndrome (ES) * Persistent or chronic immune thrombocytopenia (ITP; \>6 months after first manifestation)
Exclusion criteria
* (history of) malignancies * (history of) hematopoietic stem cell transplantation
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| underlying disease that causes or is associated with severe immune cytopenia | 0-4 years | identify the underlying condition or other disease, e.g., primary immunodeficiency or bone marrow failure syndrome by diagnostic procedures according to a standardized algorithm |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Clinical course | 0-4 years | Documentation of physician-reported clinical symptoms including outcome measures/performance scores |
| Biomarkers - Blood | 0-4 years | Identification of novel biomarkers by flow cytometry of leukocytes |
| Biomarkers - Stool | 0-4 years | Identification of potential modifiers of immune tolerance by studying the intestinal microbiome |
| Routine laboratory parameters | 0-4 years | documentation of laboratory parameters that are routinely assessed for immune cytopenia |
| Number of participants with the diagnosis of severe immune cytopenia per participating centre and per year | 0-4 years | epidemiological data acquisition, participants included according to the inclusion criteria |
Countries
Austria
Outcome results
None listed