Evaluation of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 71
- 试验地点
- 1
- 主要终点
- Liver fat deposition measured by liver MRS proton density fat fraction at the site of the dome of the liver
研究概览
简要总结
Background:
- Spinal and bulbar muscular atrophy (SBMA) is an inherited disease. It causes weakness in muscles used for swallowing, breathing, and speaking. SBMA mainly affects men, but women can carry the gene for it. Researchers think there may be a link between SBMA and excess fat in the liver.
Objective:
- To look for fatty liver and liver injury in people with SBMA, people with motor neuron disease, and people who carry the gene for SBMA.
Eligibility:
- Adults 18 years and older who have SBMA, have motor neuron disease, or are carriers of SBMA.
- Healthy adult volunteers.
Design:
- Participants will be screened with medical history, physical exam, and blood tests.
- Participants will have 1 outpatient visit of 1-2 days. Women will have a urine pregnancy test. All participants will have:
- Blood tests.
- Liver ultrasound. A probe is placed on the abdomen at certain locations and angles and takes pictures. The painless procedure takes 20-30 minutes.
- Liver magnetic resonance imaging (MRI) scan. The MRI scanner is a metal cylinder with a magnetic field. Participants will lie on a table that slides in and out of it. They will be in the scanner for about 30 minutes. They will get earplugs for loud noises.
- Some participants with abnormal liver testing will have a biopsy (small piece) of the liver taken. The biopsy site will be located with ultrasound, then cleaned and numbed. The physician will quickly pass a needle in and out of the liver while the participants holds their breath. Afterward, participants will be monitored in bed for 6 hours.
- Participants may return for follow-up and another 1-2 day outpatient visit yearly for up to 2 years.
详细描述
Objectives:
Spinal and bulbar muscular atrophy (SBMA), or Kennedy s disease, is a slowly progressive hereditary motor neuron disease for which there is currently no effective treatment. Whether the liver is affected in SBMA is unclear. Preliminary analysis in SBMA patients has shown changes including increased hepatic fat, which requires additional investigation. Female carriers and patients with motor neuron disease will also participate in the study to evaluate for liver fat and function via imaging and laboratory tests.
Study Population:
We plan to enroll 15 men with genetically confirmed SBMA, 15 age-matched healthy control men, 15 SBMA carrier women, 15 age-matched healthy control women and 15 males with other motor neuron disease patients as disease controls. As of September 2017, recruitment is complete for men with genetically confirmed SBMA (n=15 recruited), age-matched healthy control men (n=15 recruited), SBMA carrier women (n=14 recruited), and 15 age-matched healthy control women (n=14 recruited). Recruitment of motor neuron disease subjects as disease controls for the study began in April 2018 and is ongoing. Our goal is to recruit 12 more disease control subjects.
Design:
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Liver fat deposition measured by liver MRS proton density fat fraction at the site of the dome of the liver
时间窗: Initial Visit and annual follow- up visits
The primary outcome measures will be the liver fat deposition measured by liver MRS proton density fat fraction at the site of the dome of the liver. These measures will help us evaluate the prevalence and severity of fatty liver infiltration in SBMA patients compared to healthy controls.
次要结局
- Assessment of liver injury by biochemical analysis and thephysiological measures(Initial Visit and annual follow-up visits)