Severe Immune Cytopenia Registry Www.Sic-reg.Org (sic-reg)

Register für Schwere Immunzytopenien - Severe Immune Cytopenia Registry (SIC-Reg.Org)

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Primary Immunodeficiency; Immune Thrombocytopenia; Autoimmune Hemolytic Anemia; Evans Syndrome
• Intervention / Treatment: 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 Type: Observational
• Enrollment (Actual): 80

Contacts and Locations

• Study Contact: Name: Seidel; Phone Number: 82621 +43316385; Email: markus.seidel@medunigraz.at

Study Locations

• Austria
  • Styria
    • Graz, Styria, Austria, 8036
      • Pediatric Hematology-Oncology Outpatient Clinic

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 9 months to 23 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

consecutive registration of pediatric, adolescent, and young adult patients with severe immune cytopenia who consent

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
underlying disease that causes or is associated with severe immune cytopenia	identify the underlying condition or other disease, e.g., primary immunodeficiency or bone marrow failure syndrome by diagnostic procedures according to a standardized algorithm	0-4 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Clinical course	Documentation of physician-reported clinical symptoms including outcome measures/performance scores	0-4 years
Biomarkers - Blood	Identification of novel biomarkers by flow cytometry of leukocytes	0-4 years
Biomarkers - Stool	Identification of potential modifiers of immune tolerance by studying the intestinal microbiome	0-4 years
Routine laboratory parameters	documentation of laboratory parameters that are routinely assessed for immune cytopenia	0-4 years
Number of participants with the diagnosis of severe immune cytopenia per participating centre and per year	epidemiological data acquisition, participants included according to the inclusion criteria	0-4 years

Collaborators and Investigators

• Sponsor: Medical University of Graz
• Investigators: Principal Investigator: Seidel, Medical University of Graz

Publications and helpful links

Helpful Links

• Study website with information and contact details for participating or interested patients, parents, institutions, physicians

Study record dates

Study Major Dates

• Study Start (Actual): March 9, 2018
• Primary Completion (Actual): December 31, 2023
• Study Completion (Estimated): December 31, 2024

Study Registration Dates

• First Submitted: June 8, 2018
• First Submitted That Met QC Criteria: June 21, 2018
• First Posted (Actual): July 3, 2018

Study Record Updates

• Last Update Posted (Estimated): January 11, 2024
• Last Update Submitted That Met QC Criteria: January 10, 2024
• Last Verified: January 1, 2024

More Information

Terms related to this study

• Keywords: aplastic anemia; myelodysplastic syndrome; primary immunodeficiency; pancytopenia; immune dysregulation; autoimmune cytopenia
• Additional Relevant MeSH Terms: Pathologic Processes; Immune System Diseases; Autoimmune Diseases; Hematologic Diseases; Hemorrhage; Hemorrhagic Disorders; Genetic Diseases, Inborn; Anemia; Blood Coagulation Disorders; Skin Manifestations; Blood Platelet Disorders; Thrombotic Microangiopathies; Purpura, Thrombocytopenic; Purpura; Immunologic Deficiency Syndromes; Primary Immunodeficiency Diseases; Purpura, Thrombocytopenic, Idiopathic; Thrombocytopenia; Anemia, Hemolytic; Anemia, Hemolytic, Autoimmune
• Other Study ID Numbers: 30-155 ex 17/18

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No