Registry for patients with Diamond Blackfan anemia
Official title: Diamond Blackfan Anemia Registry (DBAR)
Run by Northwell Health · NCT00106015 · Data updated 2026-11-12
This study is creating a registry to collect information from people with Diamond Blackfan anemia to better understand the condition and its complications.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 900 (estimated) |
| Sponsor | Northwell Health Academic / other |
| Locations | 1 site (New Hyde Park, New York) |
| Status | Recruiting |
| Started | September 2004 |
| Main results expected | April 2030 |
| Study ends | April 2030 |
| Registry record updated | April 16, 2026 |
| Trial ID | NCT00106015 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals diagnosed with Diamond Blackfan anemia who meet specific diagnostic criteria.
✕Probably not a fit
Patients with other bone marrow failure syndromes will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to create a comprehensive registry for individuals diagnosed with Diamond Blackfan anemia (DBA), a rare inherited bone marrow failure syndrome. DBA is characterized by pure red cell aplasia and can present with various congenital anomalies and a predisposition to cancer. The registry will facilitate the collection of clinical and genetic data to enhance understanding of the disorder and its associated complications. By gathering information from affected individuals, the study seeks to improve knowledge about DBA and its underlying mechanisms.
Why it matters
Potential benefit: If successful, this registry could lead to better understanding and management of Diamond Blackfan anemia, ultimately improving patient outcomes.
How similar studies have gone: While this registry approach is not novel, it is essential for advancing research in rare diseases like DBA, and similar registries have shown success in improving patient care and understanding of other conditions.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients must meet the diagnostic criteria for DBA which include the following: 1. Normochromic, usually macrocytic and occasionally normocytic anemia developing early in childhood 2. Reticulocytopenia 3. Normocellular bone marrow with a selective deficiency of red cell precursors 4. Normal or slightly decreased leukocyte count 5. Normal or often increased platelet count 6. Or, a confirmed mutation in one of the identified DBA genes Exclusion Criteria: * Any subject identified as having another bone marrow failure syndrome (eg. Fanconi anemia, dyskeratosis congenita, Shwachman Diamond syndrome, etc.) will be excluded.
Where it's running
-
Cohen Children's Medical Center of NY
New Hyde Park, New York, United States Recruiting
Study contacts
- Principal investigator: Adrianna Vlachos, MD — Cohen Children's Medical Center of NY/Feinstein Institutute for Medical Research
- Study coordinator: Eva Atsidaftos, MA
- Email: eatsidaf@northwell.edu
- Phone: 718-470-5523
Similar studies
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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.