Registry of Congenital Dyserythropoietic Anemia

Congenital Dyserythropoietic Anemia Clinical Trial

— CDA  

Official title:

French National Registry of Congenital Dyserythropoietic Anemia

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03983629
• Other study ID #: OBS-0020
• Status: Recruiting
• Start date: February 23, 2017
• Est. completion date: February 2022

Study information

• Verified date: June 2019
• Source: Lille Catholic University
• Contact: Amélie Lansiaux, MD, PhD
• Phone: 320225269
• Email: lansiaux.amelie[@]ghicl.net
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: February 2022
• Est. primary completion date: February 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Anemia
• Congenital Dyserythropoietic Anemia

Intervention

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

Locations

Country	Name	City	State
France	Hôpital Saint-Vincent de Paul	Lille	Hauts-de-France

Sponsors (1)

Lead Sponsor	Collaborator
Lille Catholic University

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Percentage of mutations	Genetic analysis will be performed with whole genome and whole exome sequencing	up to three years
Secondary	Median survival		up to three years
Secondary	Prevalence of different causes of death		up to three years
Secondary	Rate of Interferon treatment efficacy		up to three years