What is this study trying to find out about Diamond Blackfan anemia?

This study is collecting detailed information on patients with Diamond Blackfan anemia to better understand its biology and how it affects people. Researchers aim to learn more about the genetic features, clinical symptoms, and outcomes of this rare blood disorder. The study is sponsored by Northwell Health and helps guide diagnosis and treatment decisions for patients.

Who may be eligible for this Diamond Blackfan anemia clinical trial?

Anyone diagnosed with Diamond Blackfan anemia, usually presenting as anemia early in childhood, may be eligible. There is no age or gender restriction, but individuals with other bone marrow failure syndromes like Fanconi anemia are excluded. Please review eligibility criteria for more details.

Is there any cost to participate in this Diamond Blackfan anemia clinical trial?

Study-related care, including data collection and research assessments, is provided at no cost. Personal travel expenses may vary and are not guaranteed to be covered. Participants can expect to contribute information during routine medical visits.

Actively Recruiting

All Genders

ID00106015

Diamond Blackfan Anemia Registry to Study the Biology and Epidemiology of DBA and Support Patient Care

Led by Northwell Health · Updated on 2026-04-16

900

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Researchers are maintaining a detailed registry of patients diagnosed with Diamond Blackfan anemia DBA, a rare inherited bone marrow failure syndrome. DBA is a genetic disorder causing anemia early in childhood, often accompanied by congenital anomalies and a risk for blood-related cancers. The study aims to enhance understanding of DBAs epidemiology, biology, and genetic traits to improve diagnosis and treatment. This observational study is a continuation of an established registry started in 1992, supported by the Northwell Health institution. The registry collects comprehensive data from patients who meet specific diagnostic criteria for DBA, including anemia characteristics, bone marrow analysis, blood counts, and genetic mutations. This resource provides access to well-characterized patients for research studies and treatment protocols. The registry also offers patients and their doctors important information to support diagnostic, therapeutic, and reproductive decisions. Participants contribute data over time, helping researchers track the epidemiology and biology of DBA annually. The study involves gathering clinical information, genetic testing results, and patient outcomes to facilitate genotype-phenotype correlations. By maintaining updated patient records, the registry supports ongoing research and patient care, with no fixed end date as the study continues to collect valuable data for understanding DBA.

CONDITIONS

Brief Title

Diamond Blackfan Anemia Registry (DBAR)

Who Can Participate

All Genders

Eligibility Criteria

You may qualify if you...

Patients must meet the diagnostic criteria for DBA, including normochromic anemia usually developing early in childhood
Reticulocytopenia (low reticulocyte count)
Normocellular bone marrow with selective deficiency of red cell precursors
Normal or slightly decreased leukocyte count
Normal or often increased platelet count
Or a confirmed mutation in one of the identified DBA genes

You will not qualify if you...

Diagnosis of another bone marrow failure syndrome such as Fanconi anemia, dyskeratosis congenita, or Shwachman Diamond syndrome

Research Team

Eva Atsidaftos, MA

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