The Congenital Dyserythropoietic Anemia Registry (CDAR)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 10,000
- 试验地点
- 2
- 主要终点
- Clinical course during
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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)
排除标准
- •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.
结局指标
主要结局
Clinical course during
时间窗: 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
时间窗: 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
时间窗: 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.
Ethnic background and demographic information will also be collected for epidemiologic studies
时间窗: 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
时间窗: 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.
Iron overload, frequency and methods of monitoring, iron chelators, effectiveness and history of side effects if
时间窗: 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.
History of stem cell transplant, effect, complications
时间窗: 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.
Age and symptoms at presentation and/or diagnosis
时间窗: 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.
Splenomegaly, history of splenectomy and effect if performed; possible complications, e.g. thrombosis or
时间窗: 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.
Evidence and complications of hemolysis and of extramedullary
时间窗: 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.
Other medications, e.g. interferon A for CDA-I, effect on anemia and on transfusion frequency, any side effects
时间窗: 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.
次要结局
未报告次要终点