Recruiting

Observational Study

Sponsor:

Children's Hospital Medical Center, Cincinnati

Code:

NCT02964494

Conditions

Congenital Dyserythropoietic Anemia (CDA)

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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.

Conditions

Congenital Dyserythropoietic Anemia (CDA)

Study ID

NCT02964494

Start date

Aug 29, 2016

Status verified date

Jun, 2026

Completion date

Jan, 2031

Anticipated

Primary completion date

Jul, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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 Design

Enrollment

10000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Age and symptoms at presentation and/or diagnosis [ Time Frame: From study entry to >15 years ]
  • Degree of anemia [ Time Frame: From study entry to >15 years ]
  • Clinical course during [ Time Frame: From study entry to >15 years ]
  • Growth and development, endocrinologic evaluation, skeletal [ Time Frame: From study entry to >15 years ]
  • Transfusion requirements [ Time Frame: From study entry to >15 years ]
  • Evidence and complications of hemolysis and of extramedullary [ Time Frame: 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 ]
  • Splenomegaly, history of splenectomy and effect if performed; possible complications, e.g. thrombosis or [ Time Frame: From study entry to >15 years ]
  • History of stem cell transplant, effect, complications [ Time Frame: 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 ]
  • Ethnic background and demographic information will also be collected for epidemiologic studies [ Time Frame: From study entry to >15 years ]

Central Contacts and Locations

Central contacts

Hotline

513-636-6770

Locations

Cincinnati Children's Hospital Medical Center

Recruiting

Cincinnati, Ohio, United States, 45229

Contacts

Hotline

513-636-6770theodosia.kalfa@cchmc.org

Principal Investigator:

Theodosia Kalfa, MD, PhD

More Information

Sponsor

Children's Hospital Medical Center, Cincinnati

Last update posted

Jun 16, 2026

Last verified

Jun, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-10. This information was provided to ClinicalTrials.gov by Children's Hospital Medical Center, Cincinnati on 2026-06-16. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.