Diamond-Blackfan Anemia (DBA), Congenital Hypoplastic Anemia, Congenital Erythroid Aplasia, Diamond-Blackfan Syndrome Diamond-Blackfan anemia
Conditions
Interventions
MRI whole-body iron scans will be performed , blood will be drawn to test for conventional biochemical blood iron parameters and innovative (experimental) blood iron parameters
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Patients with Diamond Blackfan Anemia Syndrome (DBAS), either genetically confirmed or clinically diagnosed: adults and children =8 years of age. Children between the ages of 8-11 will only be included when they have a clinical indication to undergo an MRI or have previously undergone MRI and require a follow-up scan.
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: • Patients with DBAS <8 years of age • Patients with DBAS (or healthy controls) who are unable to provide written informed consent.Patients post-HSCT if transplantation was performed <12 months prior to inclusion or in case of active Graft versus Host Disease requiring systemic treatment. • Patients post-HSCT with active graft-versus-host disease (GVHD) requiring systemic treatment. • Patients post-HSCT who are receiving systemic immunosuppressive therapy within 3 months prior to screening. • Patients post-HSCT with unstable graft function, defined as transfusion dependence in the past 6 months or persistent clinically significant cytopenias that, in the opinion of the treating physician, preclude safe participation. • Inability to undergo an MRI examination*
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To evaluate the correlation between whole-body iron measurements obtained through MRI (WB-MRI) and both conventional biochemical blood iron parameters and innovative (experimental) blood iron parameters, in order to obtain a comprehensive picture of iron distribution and relative excess iron by organ system. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary objectives:Insights into the regulation of iron metabolism in DBAS in relation to clinical severity (transfusion-dependent versus non-transfusion-dependent).Insights into the potential clinical value of innovative parameters of iron metabolism in relation to the pathophysiology of iron overload (such as ERFE, NTBI and LPI).Insights into the pathophysiology of iron overload in DBAS in relation to other "iron-loading anemias" described in the literature. | — |
Countries
Netherlands
Contacts
Public ContactG.Z.L. Kuppens
Universitair Medisch Centrum Utrecht
Outcome results
None listed