Diamond Blackfan Anemia Registry (DBAR)

Description

The purpose of this study is to maintain a comprehensive registry of patients with the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA).

Conditions

Anemia, Blood Disease

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Study Overview

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Study Details

Study overview

The purpose of this study is to maintain a comprehensive registry of patients with the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA).

Diamond Blackfan Anemia Registry (DBAR)

Diamond Blackfan Anemia Registry (DBAR)

Condition
Anemia
Intervention / Treatment

-

Contacts and Locations

New Hyde Park

Cohen Children's Medical Center of NY, New Hyde Park, New York, United States, 11040

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * Any subject identified as having another bone marrow failure syndrome (eg. Fanconi anemia, dyskeratosis congenita, Shwachman Diamond syndrome, etc.) will be excluded.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Northwell Health,

Adrianna Vlachos, MD, PRINCIPAL_INVESTIGATOR, Cohen Children's Medical Center of NY/Feinstein Institutute for Medical Research

Jeffrey M Lipton, MD, PhD, STUDY_CHAIR, Cohen Children's Medical Center of NY/Feinstein Institute for Medical Research

Study Record Dates

2026-04