" Knowing & Treating Kosaki/Penttinen Syndromes " International Collaborative Consortium. A Real-life Observational Study on the Natural History of KOGS and PS and on the Efficacy and Safety Profile of TKIs in These Patients.
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- Symptom's burden
研究概览
简要总结
Kosaki overgrowth syndrome (KOGS) and Penttinen syndrome (PS) are extremely rare multisystem disorders caused by heterozygous activating variants of the PDGFRB gene. KOGS results in characteristic craniofacial, orthopedic, skin and neurological disorders. PS is a progeroid disease responsible for a prematurely aged appearance. Patients suffer significant morbidity and mortality due to various complications. Tyrosine Kinase Inhibitors (TKIs) targeting PGDFRB appear to be a potential treatment option, as evidenced by a few case reports showing clinical improvement in some patients, with modest and self-resolving side effects. The natural history of these two syndromes remains poorly understood as only case-reports have been published.
Therefore, an international consortium was created in December 2019 by Pr FAIVRE (CHU Dijon Bourgogne & ERN ITHACA) to follow treated and untreated patients in a real-life, multicentre, observational study, in order to expand our knowledge of these ultra-rare diseases. In the longer term, we believe that TKIs could bring clinical benefit to KOGS/PS patients.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Years 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of Kosaki or Penttinen syndrome
- •Molecular diagnosis of an activating variant in PDGFRB gene
- •Patient who has been informed and provide a written informed consent
排除标准
- •Absence of clinical diagnosis of Kosaki or Penttinen syndrome
- •Absence of molecular diagnosis of an activating variant in the PDGFRB gene.
- •Patient who has not been informed and/or did not provide a written informed consent.
结局指标
主要结局
Symptom's burden
时间窗: At various time points according to the type of symptom: from weekly to every 5 years
Symptoms: type, severity, date of appearance, evolution
次要结局
- Safety of TKI(Through the study completion, an average of 10 years.)
- Efficacy of TKI(Through the study completion, an average of 10 years.)
- Percentage of patients whose TKI has been chosen according to cellular studies(Through the study completion, an average of 10 years.)
- Percentage of patients whose follow-up complies with recommendations(Through the study completion, an average of 10 years.)