The Congenital Dyserythropoietic Anemia Registry (CDAR)

NCT02964494 | Recruiting

• 1 other identifier: 2016-2727_CDAR
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 1

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)

Outcome Measures

Primary Outcomes (11)

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Congenital Dyserythropoietic Anemia (CDA)

You may qualify if:

• 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)

You may not qualify if:

• 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.

Sponsors & Collaborators

• Children's Hospital Medical Center, Cincinnati: lead

Study Sites (1)

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

Related Publications (7)

• Seu KG, Trump LR, Emberesh S, Lorsbach RB, Johnson C, Meznarich J, Underhill HR, Chou ST, Sakthivel H, Nassar NN, Seu KJ, Blanc L, Zhang W, Lutzko CM, Kalfa TA. VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects. Am J Hum Genet. 2020 Dec 3;107(6):1149-1156. doi: 10.1016/j.ajhg.2020.10.013. Epub 2020 Nov 12.

  PMID: 33186543 BACKGROUND

• Boucher AA, Dayton VJ, Pratt AR, Nassar NN, Elgammal Y, Kalfa TA. Three-generation female cohort with macrocytic anemia and iron overload. Am J Hematol. 2025 Jan;100(1):133-138. doi: 10.1002/ajh.27489. Epub 2024 Sep 27. No abstract available.

  PMID: 39329459 BACKGROUND

• Hernandez G, Romero-Cortadellas L, Ferrer-Cortes X, Venturi V, Dessy-Rodriguez M, Olivella M, Husami A, De Soto CP, Morales-Camacho RM, Villegas A, Gonzalez-Fernandez FA, Morado M, Kalfa TA, Quintana-Bustamante O, Perez-Montero S, Tornador C, Segovia JC, Sanchez M. Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III. Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324/haematol.2022.281277. No abstract available.

  PMID: 36200420 BACKGROUND

• Yenwongfai LN, Arora R, Smith AP, Kalfa T, Husami A, Radulescu V, Myers K, Lorsbach R. Pediatric myelofibrosis due to compound heterozygous MPIG6B mutations in a patient of European ancestry. Pediatr Blood Cancer. 2023 Mar;70(3):e30023. doi: 10.1002/pbc.30023. Epub 2022 Oct 2. No abstract available.

  PMID: 36184776 BACKGROUND

• Harms FL, Rexach JE, Efthymiou S, Aynekin B, Per H, Gulec A, Nampoothiri S, Sampaio H, Sachdev R, Stoeva R, Myers K, Pena LDM, Kalfa TA, Chard M, Klassen M, Pries M, Kutsche K. Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. Eur J Hum Genet. 2024 May;32(5):558-566. doi: 10.1038/s41431-024-01563-5. Epub 2024 Feb 19.

  PMID: 38374468 BACKGROUND

• Niss O, Lorsbach RB, Berger M, Chonat S, McLemore M, Buchbinder D, McCavit T, Shaffer LG, Simpson J, Schwartz JH, Meznarich J, Emberesh M, Seu KG, Zhang W, Kalfa TA; CDAR consortium. Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). Blood Cells Mol Dis. 2021 Mar;87:102534. doi: 10.1016/j.bcmd.2020.102534. Epub 2020 Dec 24.

  PMID: 33401150 RESULT

• Kim S, Khoriaty R, Li L, McClune M, Kalfa TA, Wu J, Peltier D, Fujiwara H, Sun Y, Oravecz-Wilson K, King RA, Ginsburg D, Reddy P. ER-to-Golgi transport and SEC23-dependent COPII vesicles regulate T cell alloimmunity. J Clin Invest. 2021 Jan 19;131(2):e136574. doi: 10.1172/JCI136574.

  PMID: 33463537 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Subject DNA isolated from subject's oral cells or blood or other biological samples donated to be used for gene sequencing diagnostic studies (evaluate for known or novel genes that may be causative of CDA) Bone marrow will be collected ONLY when bone marrow samples are being collected for standard diagnostic or treatment related reasons. No interventional procedure other than a voluntary blood draw, if patient consents, is required as part of the CDAR Registry

MeSH Terms

Conditions

Anemia, Dyserythropoietic, Congenital

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Theodosia Kalfa, MD, PhD

  Children's Hospital Medical Center, Cincinnati

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Hotline

CONTACT

513-636-6770

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 15 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 4, 2016
• First Posted: November 16, 2016
• Study Start: August 29, 2016
• Primary Completion: July 1, 2026
• Study Completion (Estimated): January 1, 2031
• Last Updated: June 16, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will share

Locations

US (1)