Markers for Primary Immunodeficiency

Not currently 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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to identify markers that can help diagnose and treat autoimmune cytopenias, where the immune system attacks blood cells, in individuals with primary immunodeficiencies, conditions where the immune system doesn’t function properly. Researchers will examine the immune system and genetics to find these markers, potentially leading to better treatment strategies. The trial seeks participants diagnosed with autoimmune cytopenia, such as immune thrombocytopenic purpura or autoimmune hemolytic anemia. Participants should experience ongoing symptoms that impact daily life, like low platelet counts or low hemoglobin levels. As an unphased trial, this study offers a unique opportunity to contribute to groundbreaking research that could enhance future diagnosis and treatment options.

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 prior data suggests that the identification of specific markers is safe?

Research has shown that specific safety information for the treatment aimed at identifying markers for primary immunodeficiency is not available. This treatment examines genetic information and immune profiles using advanced methods like next-generation sequencing, a technique for reading DNA.

Since the trial focuses on identifying markers, it is considered low-risk. The process primarily involves collecting and analyzing information rather than administering a drug or physical treatment. Participants do not receive any new medication, which typically means minimal risk.

However, staying updated on any new findings or updates from the study is important. Participants should discuss any concerns or questions with the research team to ensure a clear understanding of the study's goals and potential risks. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about identifying specific markers for primary immunodeficiency because this approach could revolutionize how we diagnose and understand these conditions. Unlike current treatments, which often focus on managing symptoms through antibiotics, immunoglobulin replacement, or stem cell transplants, this method leverages cutting-edge techniques like next-generation sequencing and bioinformatics. By pinpointing unique genetic and immunological markers, this approach aims to provide a more precise diagnosis and potentially tailor treatments to individual patients, offering a more personalized and effective healthcare solution.

What evidence suggests that identifying specific markers is effective for primary immunodeficiency?

Research has shown that identifying specific signs in the immune system can aid in diagnosing autoimmune cytopenias, conditions where the immune system attacks blood cells. These signs can also indicate who might respond well to treatments. This trial studies the identification of specific markers to enhance early diagnosis and treatment outcomes. Studies have found that detecting changes in genes and body processes aids in early diagnosis and improves treatment results. This method helps predict and manage issues related to primary immunodeficiencies, which are immune system problems present from birth. Early detection of these signs can lead to targeted treatments and improve patient care. ^{2 6 7 8 9}

Are You a Good Fit for This Trial?

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

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

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

Exclusion Criteria

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

Timeline for a Trial Participant

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

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

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+

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11425801/

Diagnostic tests for primary immunodeficiency disorders The identification of specific mutations and altered pathways provides valuable insights for early diagnosis ... effectiveness, and data analysis ...

2. withpower.com withpower.com/trial/phase-cytopenias-6-2019-3972f

Markers for Primary Immunodeficiency · Info for Participants Trial Overview The study aims to identify specific early biomarkers in the immune system that can help diagnose autoimmune cytopenias and predict who will ...

3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11161432/

An Exploratory Approach of Clinically Useful Biomarkers ... Common variable immunodeficiency (CVID) represents the most frequently encountered primary antibody deficiency, affecting 1:25,000 individuals.

4. sciencedirect.com sciencedirect.com/science/article/pii/S2213219822009254

Early Diagnosis of Primary Immunodeficiency Disease ... We developed a novel prediction model using clinical data that can enable early diagnosis of patients with PIDD based on their history of symptomatic care.

5. onlinelibrary.wiley.com onlinelibrary.wiley.com/doi/10.1155/2024/8215195

Identification of Specific Cell Surface Markers on Immune ... This information provides important baseline data for studies being conducted today and for future studies. In addition, squirrel monkeys are ...

6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11693724/

Unmasking inborn errors of immunity: identifying the red flags ... Immune dysregulation with autoimmune disease and hyperinflammation, lymphoproliferation, and malignancy are common manifestations and could be the only ...

7. annallergy.org annallergy.org/article/S1081-1206(19)30601-5/fulltext

Antibody deficiency testing for primary immunodeficiency Practical tests used in the clinical evaluation of patients for possible antibody deficiency include immunoglobulin measurement, specific antibody titers, and ...

8. sciencedirect.com sciencedirect.com/science/article/pii/S0264410X13001102

Vaccine This paper proposes a methodology for collection of pIMDs in clinical vaccine trials, with the objective of obtaining complete and reliable data using ...

9. aacijournal.biomedcentral.com aacijournal.biomedcentral.com/articles/10.1186/s13223-024-00938-z

Inborn errors of immunity (primary immunodeficiencies) This article provides an overview of the major categories of IEIs as well as strategies for the timely identification, diagnosis, and management of these ...