Registry of Congenital Dyserythropoietic Anemia

• Conditions: Congenital Dyserythropoietic Anemia
• Interventions: Other: Collection of data and genetic analysis

• Registration Number: NCT03983629
• Lead Sponsor: Lille Catholic University

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 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 median survival of patients is not well known, neither the causes of death

* benefit/risk 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

Not available

Study Timeline

• Study Start: 2017-02-23
• Status Verified: 2019-06
• Study First Submitted: 2019-06-05
• Study First Submitted QC: 2019-06-11
• Last Update Submitted: 2019-06-11
• Study First Posted: 2019-06-12
• Last Update Posted: 2019-06-12
• Primary Completion: 2022-02
• Study Completion: 2022-02

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

• Patient with confirmed CDA
• No opposition to the use of health data for research purposes

Exclusion Criteria

• Patient opposed to participate in the study

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
CDA patients	Collection of data and genetic analysis	-

Primary Outcome Measures

Name	Time	Method
Percentage of mutations	up to three years	Genetic analysis will be performed with whole genome and whole exome sequencing

Secondary Outcome Measures

Name	Time	Method
Rate of Interferon treatment efficacy	up to three years
Median survival	up to three years
Prevalence of different causes of death	up to three years

Trial Locations

Locations (1)

Hôpital Saint-Vincent de Paul; 🇫🇷 Lille, Hauts-de-France, France