Clinical Trial: Diamond Blackfan Anemia Registry (DBAR)

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Diamond Blackfan Anemia Registry (DBAR)

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).

Detailed Summary:

BACKGROUND:

Diamond Blackfan anemia (DBA) is a heterogeneous genetic disorder characterized by pure red cell aplasia, congenital anomalies, a predisposition to pancytopenia and myelodysplasia as well as hematopoietic and non-hematopoietic cancer. Anemia usually presents in infancy or early childhood and greater than 40% of patients have at least one congenital anomaly. The actuarial cancer risk is, as of yet, undetermined. One DBA gene has been cloned and the existence of at least two other DBA genes has been inferred by linkage analysis. Penetrance and expressivity of DBA genes are highly variable. "Affected" individuals within the same family may vary dramatically as to the degree of anemia, response to corticosteroids, the presence of congenital anomalies and the development of cancer. Despite improvements in understanding of this disorder there are significant deficiencies in knowledge that inhibit the exploitation of this syndrome to increase both specific and general knowledge of mechanisms of hematopoietic failure, birth defects and cancer predisposition. Furthermore this disease will, in the near future, provide a valuable platform to study complex gene interactions. There are less than 1000 individuals in the United States and Canada estimated to have DBA, representing at least 11 genotypes. Thus, no single center follows sufficient numbers of well-characterized patients for meaningful clinical and laboratory investigations. Furthermore, clinicians require an accurate knowledge of the clinical and laboratory presentation, mode of inheritance, treatment response, outcomes and prognosis to make important diagnostic treatment and reproductive decisions. A comprehensive registry that captures this information and characterizes patients accurately is therefore essential to advance our understanding of DBA, and in the process, knowledge regarding hematopoieti
Sponsor: Northwell Health

Current Primary Outcome: Understanding the epidemiology and biology of Diamond Blackfan anemia [ Time Frame: yearly ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Northwell Health

Dates:
Date Received: March 18, 2005
Date Started: September 2004
Date Completion:
Last Updated: December 20, 2016
Last Verified: December 2016