Clinical Trial: The Congenital Dyserythropoietic Anemia Registry (CDAR)

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

Official Title: The Congenital Dyserythropoietic Anemia Registry (CDAR)

Brief 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.

Detailed Summary:

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 dise
Sponsor: Children's Hospital Medical Center, Cincinnati

Current Primary Outcome:

  • 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.
  • 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.
  • 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.
  • 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.
  • Transfusion requirements [ Time Frame: From study entry to >15 years ]
    Same as current

    Current Secondary Outcome:

    Original Secondary Outcome:

    Information By: Children's Hospital Medical Center, Cincinnati

    Dates:
    Date Received: October 4, 2016
    Date Started: July 2016
    Date Completion: January 2031
    Last Updated: November 15, 2016
    Last Verified: November 2016