Congenital Dyserythropoietic AnemiaCDANCT03983629
Registry of Congenital Dyserythropoietic Anemia
An observational study of Congenital Dyserythropoietic Anemia, run by Lille Catholic University at 1 site in France.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Congenital Dyserythropoietic Anemia
- What is being tested?
- Collection of data and genetic analysis
- How many people
- 200 participants
- Where
- 1 siteFrance
- Study dates
- 23 Feb 2017to Feb 2022
- How long will I take part?
- 4 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient with confirmed CDA
Who may be able to join
- Patient with confirmed CDA
- No opposition to the use of health data for research purposes
Who cannot join
- Patient opposed to participate in the study
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Hôpital Saint-Vincent de Paul
Lille, Hauts-de-France, 59000
Benjamin Carpentier, MD
About this study
Official title: 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.
Read more
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
- Being tested
- Collection of data and genetic analysis
- Keywords
- Congenital Dyserythropoietic Anemia, French registry
- Medical subject headings
- Anemia, Dyserythropoietic, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Collection of data and genetic analysisOther
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 group | Role | What they receive |
|---|---|---|
| CDA patients | Not described Receives: Other: Collection of data and genetic analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of mutations
Genetic analysis will be performed with whole genome and whole exome sequencing
Measured: up to three years
Secondary outcomes (3)
Median survival
Measured: up to three years
Prevalence of different causes of death
Measured: up to three years
Rate of Interferon treatment efficacy
Measured: up to three years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jun 2019
- Study start23 Feb 2017
- Primary completionFeb 2022 (estimated)
- Study completionFeb 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Dyserythropoietic AnemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
- Target duration
- 4 Years
Sponsor and investigators
- Lead sponsor
- Lille Catholic University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Benjamin Carpentier, MD, Principal investigator, GHICL
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03983629
- Sponsor's protocol ID
- OBS-0020
- Acronym
- CDA
- Status last verified
- Jun 2019
- First submitted
- 5 Jun 2019
- Last updated
- 12 Jun 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Jun 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- French National Registry of Congenital Dyserythropoietic Anemia
- ClinicalTrials.gov ID
- NCT03983629
- Acronym / sponsor ID
- CDA / OBS-0020
- Conditions
- Congenital Dyserythropoietic Anemia
- Keywords
- Congenital Dyserythropoietic Anemia, French registry
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Lille Catholic UniversityUniversity, hospital or other
- Study start
- 23 Feb 2017 (actual)
- Primary completion
- Feb 2022 (estimated)
- Study completion
- Feb 2022 (estimated)
- First posted
- 12 Jun 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 4 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| CDA patients | – | Other: Collection of data and genetic analysis |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient with confirmed CDA
Key inclusion criteria (2 listed)
- Patient with confirmed CDA
- No opposition to the use of health data for research purposes
Key exclusion criteria (1 listed)
- Patient opposed to participate in the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Collection of data and genetic analysisData 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 | Other | CDA patients |
Primary outcome
Percentage of mutations
Time frame: up to three years
Genetic analysis will be performed with whole genome and whole exome sequencing
3 secondary outcomes
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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Jun 2019.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Benjamin Carpentier, MD principal investigator
GHICL
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Dyserythropoietic Anemia, run by Lille Catholic University at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 12 Jun 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Amélie Lansiaux, MD, PhD (320225269 ext. 0033, lansiaux.amelie@ghicl.net), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Percentage of mutations (time frame: up to three years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Jun 2019.