- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03983629
Registry of Congenital Dyserythropoietic Anemia (CDA)
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
Conditions
Intervention / Treatment
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Amélie Lansiaux, MD, PhD
- Phone Number: 0033 320225269
- Email: lansiaux.amelie@ghicl.net
Study Contact Backup
- Name: Jean-Jacques Vitagliano, PhD
- Phone Number: 0033 320225751
- Email: vitagliano.jean-jacques@ghicl.net
Study Locations
-
-
Hauts-de-France
-
Lille, Hauts-de-France, France, 59000
- Recruiting
- Hôpital Saint-Vincent de Paul
-
Contact:
- Benjamin CARPENTIER, MD
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
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
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
CDA patients
|
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
Sponsor
Investigators
- Principal Investigator: Benjamin Carpentier, MD, GHICL
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- OBS-0020
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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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