Recruiting

Observational Study

Sponsor:

Northwell Health

Code:

NCT00106015

Conditions

Anemia

Blood Disease

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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

Study ID

NCT00106015

Start date

Sep, 2004

Status verified date

Apr, 2026

Completion date

Apr, 2030

Anticipated

Primary completion date

Apr, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

900 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Understanding the epidemiology and biology of Diamond Blackfan anemia [ Time Frame: yearly ]

Central Contacts and Locations

Central contacts

Eva Atsidaftos, MA

718-470-5523eatsidaf@northwell.edu

Locations

Cohen Children's Medical Center of NY

Recruiting

New Hyde Park, New York, United States, 11040

Contacts

Eva Atsidaftos, MA

518-562-1504eatsidaf@northwell.edu

Principal Investigator:

Jeffey M Lipton, MD, PhD

More Information

Sponsor

Northwell Health

Last update posted

Apr 16, 2026

Last verified

Apr, 2026

Keywords

  • inherited pure red cell aplasia

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Northwell Health on 2026-04-16.