Registry for patients with Congenital Dyserythropoietic Anemia
Official title: The Congenital Dyserythropoietic Anemia Registry (CDAR)
Run by Children's Hospital Medical Center, Cincinnati · NCT02964494 · Data updated 2026-11-12
This study is collecting information from people with Congenital Dyserythropoietic Anemia to help researchers learn more about the condition and improve care for those affected.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 10000 (estimated) |
| Sponsor | Children's Hospital Medical Center, Cincinnati Academic / other |
| Locations | 1 site (Cincinnati, Ohio) |
| Status | Recruiting |
| Started | August 29, 2016 |
| Main results expected | July 2026 |
| Study ends | January 2031 |
| Registry record updated | June 16, 2026 |
| Trial ID | NCT02964494 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals of all ages diagnosed with any type of Congenital Dyserythropoietic Anemia, regardless of whether a genetic mutation has been identified.
✕Probably not a fit
Patients with cancer, myelodysplasia, or secondary dyserythropoiesis are unlikely to benefit from this registry.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This registry collects long-term data on patients diagnosed with Congenital Dyserythropoietic Anemia (CDA) across North America, including the US, Canada, and Mexico. It aims to maintain a bio-repository of de-identified blood and bone marrow specimens to facilitate research into the epidemiology, natural history, and molecular mechanisms of CDA. The registry is designed to enhance understanding of this rare group of genetic disorders characterized by ineffective erythropoiesis and to promote collaboration among affected individuals and their healthcare providers.
Why it matters
Potential benefit: If successful, this registry could lead to improved understanding and management of Congenital Dyserythropoietic Anemia, ultimately enhancing patient care.
How similar studies have gone: While this registry approach is relatively novel for CDA, similar registries for other rare diseases have shown success in advancing research and understanding.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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 Criteria: * 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.
Where it's running
-
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States Recruiting
Study contacts
- Principal investigator: Theodosia Kalfa, MD, PhD — Children's Hospital Medical Center, Cincinnati
- Study coordinator: Hotline
- Phone: 513-636-6770
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Zoledronic acid treatment for adults with congenital dyserythropoietic anemia
This trial will try a single intravenous dose of zoledronic acid in adults with congenital dyserythropoietic anemia to see if it raises hemoglobin and reduces the need for blood transfusions.
-
Integrated diagnosis for sickle cell disease and other rare anemias
This project tests whether combining genetic testing, LoRRca ektacytometry, and microfluidic analysis can improve diagnosis and predict disease course for people with sickle cell disease and other inherited anemias.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.