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NCT Number: NCT02964494

The Congenital Dyserythropoietic Anemia Registry (CDAR)

The investigators have created and maintain a comprehensive registry for patients with the diagnosis of Congenital Dyserythropoietic Anemia (CDA) in North America. The goal of this registry is to collect long-term confidential data on patients with CDA in the US, Canada, and Mexico and maintain 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.

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Key information

Conditions

Congenital Dyserythropoietic Anemia (CDA) Anemia Anemia, Dyserythropoietic, Congenital Anemia, Hemolytic Anemia, Hemolytic, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location status: Recruiting

Location contact

Hotline

CONTACT

[email protected]

513-636-6770

Theodosia Kalfa, MD, PhD

PRINCIPAL_INVESTIGATOR

About this study

We have established 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 is to maintain a database and bio-repository for patients with CDA and their families in order to systematically study this rare disease-group. Data regarding these subjects are collected confidentially at initial presentation or diagnosis and periodically thereafter over a long period of time (>15 years). In addition, blood, bone marrow (only if that procedure is clinically indicated based on the primary hematologist's decision) and/or DNA samples of enrolled subjects are stored for research studies with the aim to improve our understanding, diagnosis, and treatment of CDA.

The study continues recruiting.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Age and symptoms at presentation and/or diagnosis

    Time frame: From study entry to >15 years

    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.

  2. Degree of anemia

    Time frame: From study entry to >15 years

    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.

  3. Clinical course during

    Time frame: From study entry to >15 years

    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.

  4. Growth and development, endocrinologic evaluation, skeletal

    Time frame: From study entry to >15 years

    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.

  5. Transfusion requirements

    Time frame: From study entry to >15 years

    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.

  6. Evidence and complications of hemolysis and of extramedullary

    Time frame: From study entry to >15 years

    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.

  7. Iron overload, frequency and methods of monitoring, iron chelators, effectiveness and history of side effects if

    Time frame: From study entry to >15 years

    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.

  8. Splenomegaly, history of splenectomy and effect if performed; possible complications, e.g. thrombosis or

    Time frame: From study entry to >15 years

    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.

  9. History of stem cell transplant, effect, complications

    Time frame: From study entry to >15 years

    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.

  10. Other medications, e.g. interferon A for CDA-I, effect on anemia and on transfusion frequency, any side effects

    Time frame: From study entry to >15 years

    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.

  11. Ethnic background and demographic information will also be collected for epidemiologic studies

    Time frame: From study entry to >15 years

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Hotline

CONTACT

513-636-6770

Sponsors and collaborators

Lead sponsor

Children's Hospital Medical Center, Cincinnati

Other

Registry information

Important dates

Study start
2016
Primary completion
2026
Study completion
2031
First posted
Nov 16, 2016
Registry last updated
Jun 16, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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