Evaluation of Safety and Efficiency of Metreleptin Treatment for Patients With Multiple Symmetric Lipomatosis (MSL)
试验速览
- 阶段
- 2 期
- 状态
- 进行中（未招募）
- 入组人数
- 4
- 试验地点
- 1
- 主要终点
- Change in Truncal Adiposity
研究概览
简要总结
Participants (homozygous MFN2 [gene that provides instructions to produce the Mitofusin 2 protein] R707W) will be treated with Metreleptin, and effects on body composition, metabolic parameters and safety will be assessed over a 6 month intervention period. Additional safety will be assessed for 1 more year (up to 1.5 years total) in which adverse event data will be collected.
详细描述
In 2024, the IRB granted an amendment that allowed for continued data collection, including adverse events, up to 5 years per participant.
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
- 年龄范围
- — 至 60 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Have the clinical diagnosis of MSL and being followed at University of Michigan (cohort to be studied in this proof-of-concept study is already available at Michigan).
- •Willing and able to tolerate the study procedures.
- •Willing and able to tolerate blood sampling.
- •Having no condition that may impede successful data collection or interfere with testing parameters.
- •<60 years of age.
- •If female of childbearing potential:
- •Not breastfeeding.
- •Negative pregnancy test (human chorionic gonadotropin, beta subunit) at baseline.
- •Can read, understand and sign approved informed consent form, communicate with study physician, and study team, and understand and comply with protocol requirements.
排除标准
- •Presence of advanced liver disease (abnormal synthetic function, prothrombin time [PT], or albumin) in medical records
- •Evidence of other etiologies of viral hepatitis in medical records
- •Presence of active hematologic, bone marrow or other abnormalities that may increase risk of bleeding in medical records.
- •Presence of HIV infection in medical records.
- •Presence of End-stage renal disease (ESRD), active cancer, or >class 2 congestive heart failure based on medical history and physical examination.
- •Active chronic infection (e.g., known chronic osteomyelitis or Tuberculosis [TB]). May have transient infections but must be free of active infection for two weeks prior to study visits.
- •Unable to ambulate or tolerate trips to the University of Michigan Clinical Research Unit.
- •Clinically relevant Coronary artery disease (CAD): history of stent or Coronary artery bypass graft surgery (CABG) with cardiologist confirmed angina.
- •Presence of autoimmune disease.
- •Hypersensitivity to metreleptin.
- •General obesity not associated with congenital leptin deficiency.
- •Any other condition that, in our opinion, may impede successful data collection.
研究组 & 干预措施
Patients with MSL
干预措施: Metreleptin (Drug)
结局指标
主要结局
Change in Truncal Adiposity
时间窗: Baseline, Week 24
A dual-energy X-ray absorptiometry (DEXA) scan was used to measure truncal adiposity at baseline and week 24. Truncal adiposity is the amount of fat a person has in the trunk area, and this outcome measure looked at the change in the fat in this area of the body in relation to the total fat in the participant's body. Results represent the change in the percentage of fat tissue from the trunk area to the total body.
Change in Total Adiposity
时间窗: Baseline, Week 24
A dual-energy X-ray absorptiometry (DEXA) scan was used to measure total adiposity at baseline and week 24. Total adiposity is the amount of fat participants had in the body compared to their total weight. Results represent the change in the percentage of fat tissue from the total body to the total weight.
次要结局
未报告次要终点
研究者
Elif Oral
Professor of Internal Medicine
University of Michigan