A Pilot Study of Diet and Exercise Therapy in Pompe Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 2
- 试验地点
- 1
- 主要终点
- Change in results of Brief Patient-Reported Outcomes Quality of Life (PROQOL)
研究概览
简要总结
This study examines the effects of individualized diet and exercise plans on muscle strength, quality of life and respiratory function in Pompe disease. Subjects will be given a diet and exercise plan based on their individual needs, which will be followed for 16 weeks. Participants will also be provided with an activity tracker in order to track their exercise activities, access to an app that will allow them to input their daily food intake, and they will also come to the University of Florida for exercise tests, respiratory tests and questionnaires.
详细描述
Pompe is a rare disease, which occurs in approximately 1 in 40,000 births. It is a progressive and often fatal neuromuscular disorder resulting from a mutation in the gene for acid alpha- glucosidase (GAA), an enzyme necessary for the degradation of glycogen. Common symptoms include skeletal and smooth muscle myopathy, resulting in respiratory insufficiency, peripheral muscle weakness and generalized fatigue.
The progressive myopathy in Pompe disease seems to be influenced by increased muscle protein breakdown. The increased muscle protein breakdown leads to muscle wasting, weakness, increased resting energy expenditure and, consequently, increased fatigue. Our hypothesis is that a high protein, low carbohydrate diet associated with regular physical exercise will improve respiratory and peripheral muscle functions in Pompe disease.
In this study, we will investigate the effects of 16 weeks of planned diet and exercise in adolescent and young adult (15-55 years old) individuals with Pompe disease using an activity tracker.
The participant will be asked to come to the University of Florida 4 times throughout the study (screening, baseline, +/- 15 days of completing the diet and exercise plan and a follow up three months later) for exercise testing, quality of life questionnaires, respiratory function testing and blood draws.
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
- 15 Years 至 55 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male or female subjects 15-55 years of age;
- •Have a diagnosis of Pompe disease, as defined by protein assay and/or DNA sequence of the acid alpha-glucosidase gene, with present clinical symptoms of the disease;
- •Be naïve to ERT or receiving ERT for at least eighteen months prior to beginning study;
- •Be able to walk at least 40m in the 6 minute walk test.
- •Willing to comply with study requirements
排除标准
- •Be pregnant;
- •Be in the lower limit for pulmonary function; FVC < 30% predicted;
- •Be dependent on assisted ventilation;
- •Be dependent on wheelchair;
- •Have evidence of clinical heart failure;
- •Have any contraindication to exercise
研究组 & 干预措施
Diet and Exercise
Patients will be given an individualized diet and exercise plan by a physical therapist and registered dietician. The diet and exercise plan will be carried out by the participant for 16 weeks. The exercise plan, an aerobic and strength training regimen, will be performed under the supervision of a personal trainer or certified exercise physiologist that is local to the participant. The participant will complete core-stabilizing exercises which can be performed at home or in an approved group class. The participant will wear an activity tracker at all times during this 16 week period, and will be asked to manually enter data into a phone app, such as daily food intake and weight.
干预措施: Diet and Exercise (Other)
结局指标
主要结局
Change in results of Brief Patient-Reported Outcomes Quality of Life (PROQOL)
时间窗: Baseline, Month 4
The PROQOL assesses quality of life and health status to improve patient care
Change in FVC
时间窗: Baseline, Month 4
Forced Vital Capacity (FVC) is the amount of air that can be forcefully exhaled after a full inspiration, and is an indicator of overall respiratory function
Change in overall QMT score
时间窗: Baseline, Month 4
Quantitative muscle testing (QMT) measures peripheral muscle strength
次要结局
- Compliance to diet and exercise plans(Month 4)