The Congenital Dyserythropoietic Anemia Registry (CDAR)

Congenital Dyserythropoietic Anemia (CDA) Clinical Trial

Official title:

The Congenital Dyserythropoietic Anemia Registry (CDAR)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02964494
• Other study ID #: 2016-2727_CDAR
• Status: Recruiting
• Start date: August 29, 2016
• Est. completion date: January 2031

Study information

• Verified date: January 2023
• Source: Children's Hospital Medical Center, Cincinnati
• Contact: Hotline
• Phone: 513-636-6770
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

The investigators propose the creation and maintenance of a comprehensive registry for patients with the diagnosis of Congenital Dyserythropoietic Anemia (CDA) in North America. The goal of this registry will be to collect long-term confidential data on patients with CDA in the US, Canada, and Mexico and create a bio-repository of de-identified patient blood and bone marrow specimens as a tool for the investigation of epidemiology, natural history, biology, and molecular pathogenetic mechanisms of CDA.

Description:

To establish and maintain a CDA registry (CDAR): a comprehensive registry of subjects with the diagnosis of any type of congenital dyserythropoietic anemia in North America. Subjects and their physicians have expressed interest in participating in a national/international registry that could promote research and further understanding of this rare disease-group.

CDAs consist a heterogeneous group of rare genetic disorders causing ineffective erythropoiesis with the characteristic finding of multinuclear erythroid precursors in the bone marrow. The other hematopoietic lineages seem unaffected. The diagnosis of CDA is clinically challenging and is based on identifying the characteristic morphology of erythroblasts in the bone marrow of subjects presenting with chronic anemia, frequently with evidence of hemolysis but suboptimal reticulocytosis, and iron overload. Three types are well-defined by marrow morphology, although a recent classification recognizes seven different genetic types. Since certain gene defects were identified in the different types of CDAs, our understanding of the biology and pathogenesis of these diseases has been improving. However, many gaps still exist in our understanding of the related molecular mechanisms primarily due to the rarity of the disease and the lack of systematic approach to study these subjects. In addition, the heterogeneity observed among subjects and the clinical overlap with other hematologic disorders, namely hemolytic anemias with brisk erythropoietic response that may be associated with erythroid dysplasia, and with ineffective erythropoiesis, further complicates the diagnosis and often delays appropriate diagnosis and therapy.

The purpose of CDAR will be to establish a database and bio-repository for CDA subjects and their families in order to systematically study this rare disease-group. Data regarding these subjects will be collected confidentially at initial presentation or diagnosis and periodically thereafter over a long period of time (>15 years). In addition, blood, bone marrow and/or DNA samples of enrolled subjects will be stored for research studies with the aim to improve our understanding, diagnosis, and treatment of CDA.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 10000
• Est. completion date: January 2031
• Est. primary completion date: July 2026
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Diagnosis of Congenital Dyserythropoietic Anemia (CDA), whether a genetic mutation is identified or not

• Evidence of congenital anemia/jaundice or a positive family history

• Evidence of ineffective erythropoiesis

• Typical morphological appearance of bone marrow erythroblasts

• All ages (ages 0-99)

Exclusion Criteria:

• Diagnosis of cancer

• Myelodysplasia

• Secondary dyserythropoiesis: e.g.; vitamin B12 deficiency or drug-related.

Note1: Patients with rare band 3 (SLC4A1) mutations recently described to be associated with dyserythropoiesis will be eligible since the mechanisms appear to involve direct participation of band 3 in the erythroblast mitosis and cytokinesis.

Note2: Siblings, parents, and family members of patients with confirmed CDA diagnosis are encouraged to participate in the study.

Related Conditions & MeSH terms

• Anemia
• Congenital Dyserythropoietic Anemia (CDA)

Locations

Country	Name	City	State
United States	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio

Sponsors (1)

Lead Sponsor	Collaborator
Children's Hospital Medical Center, Cincinnati

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Age and symptoms at presentation and/or diagnosis	Clinical and laboratory information will be collected by the patient and the referring physician with questionnaires in order to obtain the natural history of the disease, including correlations, epidemiology, and biology of the different types of CDA.	From study entry to >15 years
Primary	Degree of anemia	Clinical and laboratory information will be collected by the patient and the referring physician with questionnaires in order to obtain the natural history of the disease, including correlations, epidemiology, and biology of the different types of CDA.	From study entry to >15 years
Primary	Clinical course during	infancyClinical and laboratory information will be collected by the patient and the referring physician with questionnaires in order to obtain the natural history of the disease, including correlations, epidemiology, and biology of the different types of CDA.	From study entry to >15 years
Primary	Growth and development, endocrinologic evaluation, skeletal	dysplasiasClinical and laboratory information will be collected by the patient and the referring physician with questionnaires in order to obtain the natural history of the disease, including correlations, epidemiology, and biology of the different types of CDA.	From study entry to >15 years
Primary	Transfusion requirements	requirementsClinical and laboratory information will be collected by the patient and the referring physician with questionnaires in order to obtain the natural history of the disease, including correlations, epidemiology, and biology of the different types of CDA.	From study entry to >15 years
Primary	Evidence and complications of hemolysis and of extramedullary	erythropoiesisClinical and laboratory information will be collected by the patient and the referring physician with questionnaires in order to obtain the natural history of the disease, including correlations, epidemiology, and biology of the different types of CDA.	From study entry to >15 years
Primary	Iron overload, frequency and methods of monitoring, iron chelators, effectiveness and history of side effects if	usedClinical and laboratory information will be collected by the patient and the referring physician with questionnaires in order to obtain the natural history of the disease, including correlations, epidemiology, and biology of the different types of CDA.	From study entry to >15 years
Primary	Splenomegaly, history of splenectomy and effect if performed; possible complications, e.g. thrombosis or	sepsisClinical and laboratory information will be collected by the patient and the referring physician with questionnaires in order to obtain the natural history of the disease, including correlations, epidemiology, and biology of the different types of CDA.	From study entry to >15 years
Primary	History of stem cell transplant, effect, complications	Clinical and laboratory information will be collected by the patient and the referring physician with questionnaires in order to obtain the natural history of the disease, including correlations, epidemiology, and biology of the different types of CDA.	From study entry to >15 years
Primary	Other medications, e.g. interferon A for CDA-I, effect on anemia and on transfusion frequency, any side effects	notedClinical and laboratory information will be collected by the patient and the referring physician with questionnaires in order to obtain the natural history of the disease, including correlations, epidemiology, and biology of the different types of CDA.	From study entry to >15 years
Primary	Ethnic background and demographic information will also be collected for epidemiologic studies	Clinical and laboratory information will be collected by the patient and the referring physician with questionnaires in order to obtain the natural history of the disease, including correlations, epidemiology, and biology of the different types of CDA.	From study entry to >15 years