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Registry of Congenital Dyserythropoietic Anemia (CDA)
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.
| Condition or disease | Intervention/treatment |
|---|---|
| Congenital Dyserythropoietic Anemia | Other: Collection of data and genetic analysis |
| Study Type : | Observational [Patient Registry] |
| Estimated Enrollment : | 200 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Target Follow-Up Duration: | 4 Years |
| Official Title: | French National Registry of Congenital Dyserythropoietic Anemia |
| Actual Study Start Date : | February 23, 2017 |
| Estimated Primary Completion Date : | February 2022 |
| Estimated Study Completion Date : | February 2022 |
| 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
|
- Percentage of mutations [ Time Frame: up to three years ]Genetic analysis will be performed with whole genome and whole exome sequencing
- Median survival [ Time Frame: up to three years ]
- Prevalence of different causes of death [ Time Frame: up to three years ]
- Rate of Interferon treatment efficacy [ Time Frame: up to three years ]
Biospecimen Retention: Samples With DNA
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
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
| Contact: Amélie Lansiaux, MD, PhD | 320225269 ext 0033 | lansiaux.amelie@ghicl.net | |
| Contact: Jean-Jacques Vitagliano, PhD | 320225751 ext 0033 | vitagliano.jean-jacques@ghicl.net |
| France | |
| Hôpital Saint-Vincent de Paul | Recruiting |
| Lille, Hauts-de-France, France, 59000 | |
| Contact: Benjamin Carpentier, MD | |
| Principal Investigator: | Benjamin Carpentier, MD | GHICL |
| Tracking Information | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| First Submitted Date | June 5, 2019 | ||||||||
| First Posted Date | June 12, 2019 | ||||||||
| Last Update Posted Date | June 12, 2019 | ||||||||
| Actual Study Start Date | February 23, 2017 | ||||||||
| Estimated Primary Completion Date | February 2022 (Final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures |
Percentage of mutations [ Time Frame: up to three years ] Genetic analysis will be performed with whole genome and whole exome sequencing
|
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| Original Primary Outcome Measures | Same as current | ||||||||
| Change History | No Changes Posted | ||||||||
| Current Secondary Outcome Measures |
|
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| Original Secondary Outcome Measures | Same as current | ||||||||
| Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title | Registry of Congenital Dyserythropoietic Anemia | ||||||||
| Official Title | French National Registry of Congenital Dyserythropoietic Anemia | ||||||||
| 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 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 Provided | ||||||||
| Study Type | Observational [Patient Registry] | ||||||||
| Study Design | Observational Model: Cohort Time Perspective: Prospective |
||||||||
| Target Follow-Up Duration | 4 Years | ||||||||
| Biospecimen | Retention: Samples With DNA Description:
serum and bone marrow
|
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| Sampling Method | Non-Probability Sample | ||||||||
| Study Population | Patient with confirmed CDA | ||||||||
| Condition | 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
|
||||||||
| Study Groups/Cohorts | CDA patients
Intervention: Other: Collection of data and genetic analysis
|
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| Publications * | Not Provided | ||||||||
|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status | Recruiting | ||||||||
| Estimated Enrollment |
200 | ||||||||
| Original Estimated Enrollment | Same as current | ||||||||
| Estimated Study Completion Date | February 2022 | ||||||||
| Estimated Primary Completion Date | February 2022 (Final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria |
Inclusion Criteria:
Exclusion Criteria:
|
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| Sex/Gender |
|
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| Ages | Child, Adult, Older Adult | ||||||||
| Accepts Healthy Volunteers | No | ||||||||
| Contacts |
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| Listed Location Countries | France | ||||||||
| Removed Location Countries | |||||||||
| Administrative Information | |||||||||
| NCT Number | NCT03983629 | ||||||||
| Other Study ID Numbers | OBS-0020 | ||||||||
| Has Data Monitoring Committee | No | ||||||||
| U.S. FDA-regulated Product |
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| IPD Sharing Statement |
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| Responsible Party | Lille Catholic University | ||||||||
| Study Sponsor | Lille Catholic University | ||||||||
| Collaborators | Not Provided | ||||||||
| Investigators |
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| PRS Account | Lille Catholic University | ||||||||
| Verification Date | June 2019 | ||||||||
