National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 200
- 试验地点
- 14
- 主要终点
- To assess whether the lipid profile of patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype
研究概览
简要总结
RASopathies, including Noonan syndrome, involve dysmorphisms, metabolic alterations, and an unfavorable lipid profile. This study investigates lipid and glucose metabolism to improve patient care.
详细描述
RASopathies are a group of congenital malformative syndromes, including Noonan syndrome and related disorders, characterized by dysmorphisms, cardiac defects, skeletal anomalies, cognitive involvement, and a variable predisposition to pediatric cancers. They share dysregulation of the RAS-MAPK pathway and exhibit altered energy metabolism, with reduced adiposity and feeding difficulties. Preliminary studies suggest an unfavorable lipid profile, with low total cholesterol and HDL, varying by sex, age, and genotype. This multicenter study aims to further investigate lipid and glucose metabolism in patients with RASopathies to better define the natural history of the disease and support clinical management.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 2 Years 至 35 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinically diagnosed RASopathy confirmed by molecular testing;
- •Patients referred to participating centers between 01/01/2001 and 31/12/2022;
- •Age at enrollment between 2 and 35 years, inclusive;
- •Obtaining informed consent.
排除标准
- 未提供
结局指标
主要结局
To assess whether the lipid profile of patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype
时间窗: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.
total, HDL, LDL cholesterol and triglycerides (mg/dL)
次要结局
- To assess whether glucose metabolism in patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype(V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.)
- To determine whether altered lipoprotein levels, compared to the general population as reported in the literature, are associated with altered apo-B and apo-A1 levels in the different forms of RASopathy(V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.)
研究者
Federica Tamburrino
MD
IRCCS Azienda Ospedaliero-Universitaria di Bologna