Ignite Creation Date:
2024-05-06 @ 1:17 PM
Last Modification Date:
2024-10-26 @ 1:12 PM
Study NCT ID:
NCT03983629
Status:
UNKNOWN
Last Update Posted:
2019-06-12
First Post:
2019-06-05
Brief Title:
Registry of Congenital Dyserythropoietic Anemia
Sponsor:
Lille Catholic University
Organization:
Lille Catholic University
Study Overview
Official Title:
French National Registry of Congenital Dyserythropoietic Anemia
Status:
UNKNOWN
Status Verified Date:
2019-06
Last Known Status:
RECRUITING
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:
CDA
Brief Summary:
Congenital dyserythropoietic anemia is a heterogeneous inherited disease Hyperplasic erythropoiesis is ineffective and associated with morphological abnormalities of some of the erythroblasts that form the basis of cytological classification The cumulative incidence is not very clear but varies between countries from 008 million in Scandinavia to 26 casesmillion inhabitants in Italy where it appears to be the most reported
The common manifestation is moderate chronic congenital anemia This anaemia is either normocytic or discreetly macrocytic non-regenerative or inappropriate regarding anaemia contrasting with signs of hemolysis with moderate unconjugated hyperbilirubinemia Diagnosis is usually made in the pediatric period but because of the great heterogeneity the diagnosis sometimes may be delayed Splenomegaly and jaundice are mostly present Secondary hemochromatosis is common in the absence of transfusion due to hyper-intestinal absorption of iron induced by the dyserythropoiesis
The transmission mode for Type I and II is autosomal recessive while it is autosomal dominant or sporadic for Type III
Several clinical questions remain concerning this disease
the median survival of patients is not well known neither the causes of death
benefitrisk of splenectomy
iron overload quantification and consequences
The idea is to stablish a French registry of congenital dyserythropoietic anemia in order to help to understand the correlation between phenotype and genotype of this disease
The common manifestation is moderate chronic congenital anemia This anaemia is either normocytic or discreetly macrocytic non-regenerative or inappropriate regarding anaemia contrasting with signs of hemolysis with moderate unconjugated hyperbilirubinemia Diagnosis is usually made in the pediatric period but because of the great heterogeneity the diagnosis sometimes may be delayed Splenomegaly and jaundice are mostly present Secondary hemochromatosis is common in the absence of transfusion due to hyper-intestinal absorption of iron induced by the dyserythropoiesis
The transmission mode for Type I and II is autosomal recessive while it is autosomal dominant or sporadic for Type III
Several clinical questions remain concerning this disease
the median survival of patients is not well known neither the causes of death
benefitrisk of splenectomy
iron overload quantification and consequences
The idea is to stablish a French registry of congenital dyserythropoietic anemia in order to help to understand the correlation between phenotype and genotype of this disease
Detailed Description:
None
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