The Congenital Dyserythropoietic Anemia Registry (CDAR)
Children's Hospital Medical Center, Cincinnati
10,000 participants
Aug 29, 2016
OBSERVATIONAL
Conditions
Summary
The investigators have created and maintain a comprehensive registry for patients with the diagnosis of Congenital Dyserythropoietic Anemia (CDA) in North America. The goal of this registry is to collect long-term confidential data on patients with CDA in the US, Canada, and Mexico and maintain a bio-repository of de-identified patient blood and bone marrow specimens as a tool for the investigation of epidemiology, natural history, biology, and molecular pathogenetic mechanisms of CDA.
Eligibility
Inclusion Criteria5
- Diagnosis of Congenital Dyserythropoietic Anemia (CDA), whether a genetic mutation is identified or not
- Evidence of congenital anemia/jaundice or a positive family history
- Evidence of ineffective erythropoiesis
- Typical morphological appearance of bone marrow erythroblasts
- All ages (ages 0-99)
Exclusion Criteria5
- Diagnosis of cancer
- Myelodysplasia
- Secondary dyserythropoiesis: e.g.; vitamin B12 deficiency or drug-related.
- Note1: Patients with rare band 3 (SLC4A1) mutations recently described to be associated with dyserythropoiesis will be eligible since the mechanisms appear to involve direct participation of band 3 in the erythroblast mitosis and cytokinesis.
- Note2: Siblings, parents, and family members of patients with confirmed CDA diagnosis are encouraged to participate in the study.
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Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT02964494