Real-World Effectiveness, Safety and Patient-reported Outcomes of Setmelanotide in Patients With Bardet-Biedl Syndrome: A Prospective Mono Centric Observational Interventional Study
试验速览
- 阶段
- 4 期
- 状态
- 招募中
- 发起方
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- Impact on lipid profile
研究概览
简要总结
Bardet-Biedl syndrome (BBS) and other rare disorders associated with impairment of the melanocortin-4 receptor (MC4R) pathway are characterized by severe early-onset obesity, hyperphagia, and substantial morbidity. Setmelanotide, an MC4R agonist, is approved in Europe for selected genetic obesity disorders and reimbursed in Germany for eligible patients. This study aims to evaluate the effectiveness, safety, treatment persistence, metabolic outcomes, and patient-reported outcomes of Setmelanotide under real-world conditions. The registry is designed to allow future inclusion of additional MC4R agonists as they become approved and clinically available. The study will primarily be conducted at University Hospital Essen and will collect longitudinal routine clinical data from pediatric and adult patients receiving MC4R agonist therapy according to approved indications.
详细描述
The MC4R signaling pathway is a key regulator of appetite and energy balance. Genetic defects affecting this pathway lead to severe obesity syndromes including Bardet-Biedl syndrome and other rare monogenic obesity disorders. Although pivotal clinical trials demonstrated efficacy of Setmelanotide, evidence from routine clinical care remains limited. This study seeks to characterize treatment outcomes in everyday clinical practice, including changes in body weight, BMI, hyperphagia, metabolic parameters, quality of life, treatment adherence, and adverse events. Patients receiving approved MC4R agonist therapy will be followed prospectively. Data will be collected during routine outpatient visits and include anthropometric, clinical, laboratory, and patient-reported measures. The study infrastructure is intended to serve as a platform for future MC4R agonists approved for severe genetic obesity disorders.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •clinical phenotype corresponding to Bardet-Biedl Syndrome
- •genetic testing with notable finding
排除标准
- •patients younger than the age approved for treatment with setmelanotide
研究组 & 干预措施
MC4R Therapy
Patients receiving approved MC4 receptor agonists according to licensed indications and routine clinical practice.
干预措施: Setmelanotide (Drug)
结局指标
主要结局
Impact on lipid profile
时间窗: Baseline to 12/24/36/48/60/72 months
Changes in lipid profile measured by cholesterol blood levels
Percent change in BMI z-score
时间窗: Baseline to 12/24/36/48/60/72 months
Relative change in BMI z-Score after initiation of MC4 receptor agonist therapy
Change in Hepatic Fat Attenuation
时间窗: Baseline to 12/24/36/48/60/72 months
Hepatic Fat Attenuation will be measured by ultrasound Attenuation imaging across different time points
次要结局
- Life quality(Baseline to 12/24/36/48/60/72 months)
- Safety and Tolerability(Baseline to 12/24/36/48/60/72 months)
- Cognitive changes(Baseline to 12/24/36/48/60/72 months)
- Functional brain connectivity(Baseline to 12/24/36/48/60/72 months)
- Changes on hypothalamic-pituitary-gonadal axis(Baseline to 12/24/36/48/60/72 months)
研究者
Tom Hühne
Deputy Director, Medical Coordination in the Center of Excellence Bardet-Biedl Syndrome
University Hospital, Essen