sic-reg: Severe Immune Cytopenia Registry Www.Sic-reg.Org

Sponsor

Medical University of Graz (Other)

Overall Status

Recruiting

CT.gov ID

NCT03576742

Collaborator

(none)

Enrollment

Location

Anticipated Duration (Months)

0.5

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Immune Thrombocytopenia Autoimmune Hemolytic Anemia Evans Syndrome Primary Immunodeficiency	Diagnostic Test: potential biomarkers

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).

Study Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

50 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Actual Study Start Date :

Mar 9, 2018

Anticipated Primary Completion Date :

Mar 8, 2024

Anticipated Study Completion Date :

Mar 8, 2026

Arms and Interventions

Arm	Intervention/Treatment
patients all who fulfil inclusion criteria and consent to participation; potential biomarkers will be documented	Diagnostic Test: potential biomarkers facs analysis, microbiome analysis

Arm

Intervention/Treatment

patients

all who fulfil inclusion criteria and consent to participation; potential biomarkers will be documented

Diagnostic Test: potential biomarkers

facs analysis, microbiome analysis

Outcome Measures

Primary Outcome Measures

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 Outcome Measures

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