Exploring immune defects in young patients with blood disorders
The Interplay Between Inborn Error of Immunity and Blood Disorders: Unravelling Immune Defects Behind Common Haematological Diseases
This study is trying to find out how immune system problems affect young people under 25 with blood disorders like autoimmune issues and bone marrow failure.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 700 (estimated) |
| Ages | N/A to 25 Years |
| Sex | All |
| Sponsor | Meyer Children's Hospital IRCCS Academic / other |
| Locations | 7 sites (Montreal, Canada and 6 other locations) |
| Trial ID | NCT06857604 on ClinicalTrials.gov |
What this trial studies
This study investigates the relationship between inborn errors of immunity and various hematologic disorders in patients under 25 years old. It aims to recruit individuals diagnosed with autoimmune cytopenias, polyclonal lymphoproliferation, malignant lymphoproliferation, or bone marrow failure/myelodysplasia. Participants will undergo extensive immunologic evaluations and genetic testing to identify both germline and somatic mutations. The goal is to better understand the immune defects associated with these conditions through a large prospective approach.
Who should consider this trial
Good fit: Ideal candidates are patients under 25 years old with specific hematologic disorders such as autoimmune cytopenias, polyclonal lymphoproliferation, malignant lymphoproliferation, or bone marrow failure/myelodysplasia.
Not a fit: Patients with lymphoma secondary to HIV or transplant, or those with self-resolving or post-infective autoimmune cytopenias may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment strategies for young patients with hematologic diseases linked to immune defects.
How similar studies have performed: While the study addresses a novel aspect of immune defects in hematologic diseases, similar studies have not been extensively conducted, making this approach relatively untested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Patients age \< 25 years 2. Patients with diagnosed autoimmune cytopenias (AIC), polyclonal lymphoproliferation (PL), lymphoma (ML), bone marrow failure, and myelodysplastic syndrome (BMF/MDS) (see details below) 3. Signed Informed Consent Exclusion Criteria: 1. Patients with Lymphoma secondary to HIV or transplant 2. Patient with self-resolving or post-infective AICs
Where this trial is running
Montreal, Canada and 6 other locations
- CHU Sainte-Justine — Montreal, Canada, Canada (Recruiting)
- CHU Sainte-Justine — Montreal, Canada, Canada (Recruiting)
- Institut Imagine — Paris, France, France (Recruiting)
- Meyer Children's Hospital IRCCS, Firenze — Florence, Fi, Italy (Recruiting)
- University of Rome Tor Vergata — Rome, Italy, Italy (Recruiting)
- Vall d'Hebron Institut de Recerca — Barcelona, Spain (Recruiting)
- Karolinska Institutet — Stockholm, Sweden, Sweden (Recruiting)
Study contacts
- Study coordinator: Eleonora Gambineri, MD
- Email: eleonora.gambineri@meyer.it
- Phone: +390555662624
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.