The Myeloproliferative Neoplasms (MPN) Childhood Registry and Biobank
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 500
- 试验地点
- 1
- 主要终点
- Incidence and epidemiology
研究概览
简要总结
Myeloproliferative neoplasms (MPNs) are caused by defects in blood cell production. This leads to an overproduction of mature cells, such as red blood cells or platelets. As a result, clinical symptoms and complications can develop. Circulatory disorders and resulting pain symptoms, such as headaches, are the most prominent. Furthermore, blood clotting disorders can occur, leading to vascular occlusions or bleeding. Over a longer period, bone marrow transformation into fibrous tissue or the development of acute leukemia can occur, resulting in even more serious complications.
In the vast majority of cases, MPNs are diagnosed in older adults. These diagnoses are extremely rare in children and adolescents. Therefore, clinical and genetic characteristics, treatment options, and outcomes in pediatric patients with MPNs are insufficiently described, and only limited data are available for standardizing diagnostic and therapeutic approaches for MPNs in childhood and adolescence. Recommendations and guidelines from the adult field, which have largely been adopted and applied to children and adolescents, do not adequately address the specific needs of patients in childhood and adolescence. To gain more insights into MPN during this early, vulnerable phase of life, we have established a nationwide registry in Germany that systematically collects data from children and adolescents with MPN.
The registry focuses particularly on the scientific analysis of the biological characteristics and differences of MPN in children and adolescents compared to adults.
详细描述
Extractions from the original Registry Protocol; please see also https://www.kinderonkologie.uk-erlangen.de/forschung-und-lehre/mpn-childhood-registry/:
Classical MPN
Background
The classical myeloproliferative neoplasms (MPN) comprise the three BCR::ABL1-negative disease entities polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Serious complications associated with MPNs are thromboembolic events and disease progression of and to myelofibrosis and acute myeloid leukemia (AML) (1).
Like other myeloid diseases, e. g. myelodysplastic syndromes (MDS) and chronic myeloid leukemia (CML), MPNs are usually diagnosed in adulthood and the median age at diagnosis of the two more prevalent conditions, PV and ET, is over 60 years. In children and adolescents, however, MPNs are very rare and knowledge concerning the biological and clinical characteristics at diagnosis and in the further course of these diseases including the incidence of vascular and long-term complications remains limited. As a consequence, there is no standardization of diagnostic and therapeutic approaches in pediatric patients with MPN and in most instances, guidelines from adult patients are applied in children and adolescents. These include that the diagnosis of an MPN is based on the identification of a driver mutation and the assessment of a bone marrow trephine. Treatment should be adapted according to a stratification into low risk or high risk according to the patient's age and history of thrombosis or hemorrhage with the aim to reduce thrombotic complications (2-4). The significance of different therapeutic avenues including antiplatelet and/or cytoreductive treatment in the population of pediatric patients with MPN is largely unknown and information about the potential long-term sequelae of treatment is sparse.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 0 Years 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Newly diagnosed PV, ET, PMF or pHES
- •Age < 18 years (up to 17 years and 365 days) at the day of diagnosis
- •Patient treated in a participating center
- •Written informed consent to registry participation
排除标准
- •o Secondary polycythemia, thrombocytosis, myelofibrosis or HES with underlying reasons other than PV, ET, PMF or pHES
研究组 & 干预措施
Childhood MPN
Pediatric Patients below the age of 18 years diagnosed with Myeloproliferative Neoplasms
干预措施: Observation (Other)
结局指标
主要结局
Incidence and epidemiology
时间窗: 15 years
Incidence and epidemiology of PV, ET, PMF and pHES in children and adolescents through systematic inclusion of these patients in a national population-based registry
Characterization
时间窗: 15 years
Characterization of clinical, hematologic, genetic and cytogenetic features of children and adolescents with PV, ET, PMF and pHES
Risk identification
时间窗: 15 years
Identification of pediatric patients with high risk of complications and disease progression and transformation into acute myeloid leukemia (AML)
Improvement of therapy
时间窗: 15 years
Improvement of the therapy for children and adolescents with MPN by discussing treatment options with the treating centers and tailor therapy to the specific and individual needs of pediatric patients
次要结局
- Preparation of international studies(15 years)
- Development of a biobank(15 years)
研究者
Axel Karow
Principal Investigator
University of Erlangen-Nürnberg Medical School