Registry for patients with Congenital Dyserythropoietic Anemia
The Congenital Dyserythropoietic Anemia Registry (CDAR)
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 |
|---|---|
| Enrollment | 10000 (estimated) |
| Sex | All |
| Sponsor | Children's Hospital Medical Center, Cincinnati Academic / other |
| Locations | 1 site (Cincinnati, Ohio) |
| Trial ID | NCT02964494 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
Not a fit: Patients with cancer, myelodysplasia, or secondary dyserythropoiesis are unlikely to benefit from this registry.
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 performed: While this registry approach is relatively novel for CDA, similar registries for other rare diseases have shown success in advancing research and understanding.
Eligibility criteria
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 this trial is running
Cincinnati, Ohio
- 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
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.