The Congenital Dyserythropoietic Anemia Registry (CDAR)

January 9, 2024 updated by: Children's Hospital Medical Center, Cincinnati
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.

Study Overview

Status

Recruiting

Conditions

Detailed 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.

Study Type

Observational

Enrollment (Estimated)

10000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Hotline
  • Phone Number: 513-636-6770

Study Locations

  • United States
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Recruiting
        • Cincinnati Children's Hospital Medical Center
        • Contact:
        • Principal Investigator:
          • Theodosia Kalfa, MD, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Congenital Dyserythropoietic Anemia (CDA)

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
From study entry to >15 years
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.
From study entry to >15 years
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.
From study entry to >15 years
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.
From study entry to >15 years
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.
From study entry to >15 years
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.
From study entry to >15 years
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.
From study entry to >15 years
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.
From study entry to >15 years
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.
From study entry to >15 years
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.
From study entry to >15 years
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.
From study entry to >15 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital Medical Center, Cincinnati

Investigators

  • Principal Investigator: Theodosia Kalfa, MD, PhD, Children's Hospital Medical Center, Cincinnati

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 29, 2016

Primary Completion (Estimated)

July 1, 2026

Study Completion (Estimated)

January 1, 2031

Study Registration Dates

First Submitted

October 4, 2016

First Submitted That Met QC Criteria

November 15, 2016

First Posted (Estimated)

November 16, 2016

Study Record Updates

Last Update Posted (Actual)

January 10, 2024

Last Update Submitted That Met QC Criteria

January 9, 2024

Last Verified

January 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2016-2727_CDAR

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Data regarding subjects that meet inclusion 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 diagnosis, treatment and care of CDA.

The samples and medical information (that is not associated with a patient's name) may be used by other researchers studying CDA, at Cincinnati Children's Hospital Medical Center or at other institutions. The researchers must get Institutional Review Board (a board that is in charge of regulating research done on people) approval prior to requesting data and/or samples from this repository if applicable. No identifying information (that associates the medical information with the subject or sample) will be available to them.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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