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Registry of Congenital Dyserythropoietic Anemia

NCT03983629 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2019-06-12

No results posted yet for this study

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.

Conditions

  • Congenital Dyserythropoietic Anemia

Interventions

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

Sponsors & Collaborators

  • Lille Catholic University

    lead OTHER

Principal Investigators

  • Benjamin Carpentier, MD · GHICL

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-02-23
Primary Completion
2022-02-28
Completion
2022-02-28

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03983629 on ClinicalTrials.gov