Registry of Congenital Dyserythropoietic Anemia (CDA)

June 11, 2019 updated by: Lille Catholic University

French National Registry of Congenital Dyserythropoietic Anemia

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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
    • Hauts-de-France
      • Lille, Hauts-de-France, France, 59000
        • Recruiting
        • Hôpital Saint-Vincent de Paul
        • Contact:
          • Benjamin CARPENTIER, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patient with confirmed CDA

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
CDA patients
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Percentage of mutations
Time Frame: up to three years
Genetic analysis will be performed with whole genome and whole exome sequencing
up to three years

Secondary Outcome Measures

Outcome Measure
Time Frame
Median survival
Time Frame: up to three years
up to three years
Prevalence of different causes of death
Time Frame: up to three years
up to three years
Rate of Interferon treatment efficacy
Time Frame: up to three years
up to three years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Lille Catholic University

Investigators

  • Principal Investigator: Benjamin Carpentier, MD, GHICL

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 23, 2017

Primary Completion (Anticipated)

February 1, 2022

Study Completion (Anticipated)

February 1, 2022

Study Registration Dates

First Submitted

June 5, 2019

First Submitted That Met QC Criteria

June 11, 2019

First Posted (Actual)

June 12, 2019

Study Record Updates

Last Update Posted (Actual)

June 12, 2019

Last Update Submitted That Met QC Criteria

June 11, 2019

Last Verified

June 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • OBS-0020

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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