An observational study in Congenital Dyserythropoietic Anemia, sponsored by Lille Catholic University. Status unknown at 1 site in France. Per ClinicalTrials.gov, last updated 2019-06-12.
Sponsored by Lille Catholic University · Observational
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 0.08 million in Scandinavia to 2.6 cases/million 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 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.
1,733 studies on the registry are indexed under Anemia; 246 are open to participants now.
This study's planned enrollment of 200 is close to the median of 200 across 326 observational studies indexed under Anemia.
Browse Anemia studies →Lille Catholic University is the lead sponsor of 111 studies on the registry; 26 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patient with confirmed CDA
Exclusion Criteria:
Other: Collection of data and genetic analysis
Data collected are: History of disease, medical history, family medical history, biological results, Imaging results, disease progression Genetic analysis will be performed with whole genome and whole exome sequencing
Percentage of mutations
Genetic analysis will be performed with whole genome and whole exome sequencing
Time frame: up to three years
Median survival
Time frame: up to three years
Prevalence of different causes of death
Time frame: up to three years
Rate of Interferon treatment efficacy
Time frame: up to three years
Plan to share: No
No publications or documents are linked to this record.
This study is status unknown, as verified in Jun 2019. You cannot join it, but the record below documents what was studied.
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Lille Catholic University