Markers for Primary Immunodeficiency

Recruiting at 5 trial locations

Age: < 18

Sex: Any

Trial Phase: Academic

Sponsor: Meyer Children's Hospital IRCCS

Disqualifiers: Transient cytopenia, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

53 Participants Needed

Trial Summary

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. Please consult with the trial coordinators for more details.

What data supports the effectiveness of the treatment for identifying specific markers in primary immunodeficiency?

Research suggests that understanding the genetic basis and using biologic response modifiers (substances that modify immune responses) can improve the treatment of primary immunodeficiency disorders. Advances in identifying genetic defects and immune system regulation have led to better therapies, such as subcutaneous immunoglobulin infusions, which have shown positive results in managing these conditions. ^{1 2 3 4 5}

What safety data exists for the treatment related to markers for primary immunodeficiency?

The research articles provided do not contain specific safety data for treatments related to markers for primary immunodeficiency. ^{5 6 7 8 9}

How does the treatment for identifying markers in primary immunodeficiency differ from other treatments?

This treatment is unique because it focuses on identifying specific markers on immune cells using monoclonal antibodies, which helps in diagnosing and classifying different types of primary immunodeficiencies, rather than directly treating the condition itself. ^{10 11 12 13 14}

What is the purpose of this trial?

Autoimmune cytopenias resistant to treatment are among the most common clinical manifestations observed in patients with congenital alterations of the immune system, such as primary immunodeficiencies (PI). The exact contribution of immune system alterations to the pathogenesis of autoimmune cytopenias has not yet been fully elucidated. Moreover, conventionally employed therapeutic strategies often fail, leading to increased healthcare costs, high morbidity, and even mortality. Therefore, there is a need to establish clinical guidelines for diagnosis and to identify early biomarkers capable of identifying individuals responsive to therapy. Thus, a systematic approach to the study of such pathologies will allow for the identification of early biomarkers and facilitate the development of targeted therapeutic strategies

Eligibility Criteria

This trial is for patients with autoimmune cytopenias, which include conditions like low platelet count, anemia, and low white blood cell count that are resistant to treatment. These patients may also have primary immunodeficiencies (PI).

Inclusion Criteria

For immune thrombocytopenic purpura: platelet count increase >30,000 with at least a twofold increase from pre-treatment value

I have been diagnosed with a blood disorder where my immune system attacks my blood cells.

For autoimmune hemolytic anemia: Hb ≥10 g/dL with an increase of at least 2 g/dL compared to baseline

Exclusion Criteria

I have a temporary low blood cell count without autoimmune disease, not needing immediate treatment.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Identification of specific markers

Analysis of the immunological profile, genetic analysis using next-generation sequencing (NGS) technology, bioinformatic analysis, and functional studies

Every three to six months

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

Treatment Details

Interventions

• Identification of specific markers

Trial Overview The study aims to identify specific early biomarkers in the immune system that can help diagnose autoimmune cytopenias and predict who will respond well to therapy.

Participant Groups

Group I: Identification of specific markers Experimental Treatment 1 Intervention

Analysis of the immunological profile, Genetic analysis using next-generation sequencing (NGS) technology, Bioinformatic analysis, Functional studies.

Who Is Running the Clinical Trial?

Meyer Children's Hospital IRCCS

Lead Sponsor

Trials

62

Recruited

17,500+

References

1. United States pubmed.ncbi.nlm.nih.gov

Biologic response modifiers in primary immunodeficiency disorders. [2019]

2. United States pubmed.ncbi.nlm.nih.gov

Primary immunodeficiency disorders. [2019]

3. France pubmed.ncbi.nlm.nih.gov

[When should immunologic explorations be carried out in children with suspicion of primary immunodeficiency?]. [2013]

4. United States pubmed.ncbi.nlm.nih.gov

Immunodeficient states and associated rheumatic manifestations. [2019]

5. Netherlands pubmed.ncbi.nlm.nih.gov

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. [2022]

6. England pubmed.ncbi.nlm.nih.gov

The European internet-based patient and research database for primary immunodeficiencies: results 2004-06. [2022]

7. Spain pubmed.ncbi.nlm.nih.gov

Laboratory screening for the diagnosis of children with primary immunodeficiencies. [2013]

8. Switzerland pubmed.ncbi.nlm.nih.gov

Diagnostic and Predictive Contribution of Autoantibodies Screening in a Large Series of Patients With Primary Immunodeficiencies. [2021]

9. Brazil pubmed.ncbi.nlm.nih.gov

NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL. [2022]

10. England pubmed.ncbi.nlm.nih.gov

T-cell subset analysis by monoclonal antibodies in primary immunodeficiencies. [2019]

11. United States pubmed.ncbi.nlm.nih.gov

Flow cytometry assays in primary immunodeficiency diseases. [2010]

12. Netherlands pubmed.ncbi.nlm.nih.gov

Monoclonal antibody analysis of T cell subsets in 40 patients with immunodeficiencies. [2007]

13. Russia (Federation) pubmed.ncbi.nlm.nih.gov

[Membrane markers of T- and B-lymphocytes in children with primary immunologic deficiency conditions]. [2016]

14. United States pubmed.ncbi.nlm.nih.gov

Lymphocytes in patients with variable immunodeficiency and panhypogammaglobulinemia. Evaluation of B and T cell surface markers and a proposed classification. [2018]