Ignite Creation Date:
2024-05-06 @ 9:21 AM
Last Modification Date:
2024-10-26 @ 12:13 PM
Study NCT ID:
NCT02964494
Status:
RECRUITING
Last Update Posted:
2024-01-10
First Post:
2016-10-04
Brief Title:
The Congenital Dyserythropoietic Anemia Registry CDAR
Sponsor:
Childrens Hospital Medical Center Cincinnati
Organization:
Childrens Hospital Medical Center Cincinnati
Study Overview
Official Title:
The Congenital Dyserythropoietic Anemia Registry CDAR
Status:
RECRUITING
Status Verified Date:
2023-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The investigators propose the creation and maintenance of a comprehensive registry for patients with the diagnosis of Congenital Dyserythropoietic Anemia CDA in North America The goal of this registry will be to collect long-term confidential data on patients with CDA in the US Canada and Mexico and create a bio-repository of de-identified patient blood and bone marrow specimens as a tool for the investigation of epidemiology natural history biology and molecular pathogenetic mechanisms of CDA
Detailed Description:
To establish and maintain a CDA registry CDAR a comprehensive registry of subjects with the diagnosis of any type of congenital dyserythropoietic anemia in North America Subjects and their physicians have expressed interest in participating in a nationalinternational registry that could promote research and further understanding of this rare disease-group
CDAs consist a heterogeneous group of rare genetic disorders causing ineffective erythropoiesis with the characteristic finding of multinuclear erythroid precursors in the bone marrow The other hematopoietic lineages seem unaffected The diagnosis of CDA is clinically challenging and is based on identifying the characteristic morphology of erythroblasts in the bone marrow of subjects presenting with chronic anemia frequently with evidence of hemolysis but suboptimal reticulocytosis and iron overload Three types are well-defined by marrow morphology although a recent classification recognizes seven different genetic types Since certain gene defects were identified in the different types of CDAs our understanding of the biology and pathogenesis of these diseases has been improving However many gaps still exist in our understanding of the related molecular mechanisms primarily due to the rarity of the disease and the lack of systematic approach to study these subjects In addition the heterogeneity observed among subjects and the clinical overlap with other hematologic disorders namely hemolytic anemias with brisk erythropoietic response that may be associated with erythroid dysplasia and with ineffective erythropoiesis further complicates the diagnosis and often delays appropriate diagnosis and therapy
The purpose of CDAR will be to establish a database and bio-repository for CDA subjects and their families in order to systematically study this rare disease-group Data regarding these subjects will be collected confidentially at initial presentation or diagnosis and periodically thereafter over a long period of time 15 years In addition blood bone marrow andor DNA samples of enrolled subjects will be stored for research studies with the aim to improve our understanding diagnosis and treatment of CDA
CDAs consist a heterogeneous group of rare genetic disorders causing ineffective erythropoiesis with the characteristic finding of multinuclear erythroid precursors in the bone marrow The other hematopoietic lineages seem unaffected The diagnosis of CDA is clinically challenging and is based on identifying the characteristic morphology of erythroblasts in the bone marrow of subjects presenting with chronic anemia frequently with evidence of hemolysis but suboptimal reticulocytosis and iron overload Three types are well-defined by marrow morphology although a recent classification recognizes seven different genetic types Since certain gene defects were identified in the different types of CDAs our understanding of the biology and pathogenesis of these diseases has been improving However many gaps still exist in our understanding of the related molecular mechanisms primarily due to the rarity of the disease and the lack of systematic approach to study these subjects In addition the heterogeneity observed among subjects and the clinical overlap with other hematologic disorders namely hemolytic anemias with brisk erythropoietic response that may be associated with erythroid dysplasia and with ineffective erythropoiesis further complicates the diagnosis and often delays appropriate diagnosis and therapy
The purpose of CDAR will be to establish a database and bio-repository for CDA subjects and their families in order to systematically study this rare disease-group Data regarding these subjects will be collected confidentially at initial presentation or diagnosis and periodically thereafter over a long period of time 15 years In addition blood bone marrow andor DNA samples of enrolled subjects will be stored for research studies with the aim to improve our understanding diagnosis and treatment of CDA
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None