Actively Recruiting

All Genders
ID00106015

Diamond Blackfan Anemia Registry (DBAR)

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

900

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

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 DBA's 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

Eligible

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
Not Eligible

You will not qualify if you...

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

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Monitoring

Duration - Up to several years depending on participation

Participants who undergo routine care are observed to gather information about Diamond Blackfan anemia, including disease characteristics and outcomes.

Yearly visits

Trial Site Locations

Total: 1 location

1

Cohen Children's Medical Center of NY

New Hyde Park, New York, United States, 11040

Actively Recruiting

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Research Team

E

Eva Atsidaftos, MA

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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Published Research Related To This Trial

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Hanna T Gazda, Mee Rie Sheen, Adrianna Vlachos...

https://pubmed.ncbi.nlm.nih.gov/19061985

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.

Michael Landowski, Marie-Françoise O'Donohue, Christopher Buros...

https://pubmed.ncbi.nlm.nih.gov/23812780

Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry.

Jeffrey M Lipton, Eva Atsidaftos, Israel Zyskind...

https://pubmed.ncbi.nlm.nih.gov/16317735