Application of Novel Techniques to Devise Nutritional Therapies in Subjects with Glycogen Storage Disease Type I
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 14
- 试验地点
- 2
- 主要终点
- Glucose oxidation
研究概览
简要总结
Glycogen storage disease type I (GSD I) caused by deficiency of glucose-6-phosphatase enzyme leading to build up of a complex sugar called glycogen in liver and low blood glucose level. Nutritional treatment involves supplying carbohydrates and uncooked cornstarch. Glycosade® (modified cornstarch) has shown promise in maintaining normal blood glucose level in GSD I. But the difficulty in nutritional treatment is determining the best type of carbohydrate to be given to avoid low blood glucose. Thus, there is a need to develop a simple test to examine glucose digestion and measure the utilization of different carbohydrates in GSD I and healthy controls.
详细描述
Purpose: Glycogen storage disease type I (GSD I), also known as Von Gierke disease is caused by deficiency of glucose-6-phosphatase (G6Pase) enzyme affecting 1:100,000 births worldwide. Therefore, deficiency of this enzyme results in accumulation of glycogen in liver and inadequate production of glucose leading to fasting hypoglycemia. Dietary treatment for GSD I is based on supplying complex carbohydrates with small frequent meals, and use of uncooked cornstarch (UCCS). Glycosade® (modified cornstarch) has shown promise in maintaining normal blood glucose concentrations in subjects with GSD I. However, the primary dilemma in the dietary treatment of GSD I is the choice of the exogenous carbohydrate sources to achieve a desirable metabolic control and prevent hypoglycemia. In addition, the previous studies were invasive, which required several blood samples, long study days (~10 h) and could not offer mechanistic details of glucose metabolism in subjects with GSD I. Thus, there is a need to develop a minimally-invasive method to examine glucose metabolism and measure the utilization of different carbohydrate sources directly in subjects with GSD I and healthy controls. This simple breath test will help individualize treatment and tailor carbohydrate supply in subjects with GSD I.
Hypothesis: 1) Investigators hypothesize that the oxidation of isotopic carbon dioxide (13CO2) from U-13C-glucose can be detected in expired air; and 13CO2 oxidation will be a sensitive measure to examine glucose oxidation/metabolism.
- Investigators hypothesize that 13CO2 oxidation from Glycosade® will have lower peak enrichment (Cmax) compared to other carbohydrate source UCCS in patients with GSD I and healthy controls.
Justification: The difficulty in nutritional treatment of GSD I is determining the best type of carbohydrate to be given to avoid hypoglycaemia. Therefore glucose metabolism and the utilization of different carbohydrates need to be measured using minimally invasive test.
Objectives: 1) Our first objective is to establish the use of U-13C-glucose breath test (13C-GBT) and its oxidation to 13CO2 as a minimally-invasive technique to examine in vivo glucose oxidation in healthy controls.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Sequential
- 主要目的
- Health Services Research
- 盲法
- None
入排标准
- 年龄范围
- 5 Years 至 35 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Experiment 1
- •Healthy adults 19 - 35 years of age
- •Adults who have no medical conditions
- •Adults who currently free from any concurrent illness such as fever or cold
- •Experiment 2
- •Healthy Controls:
- •Healthy children 5 - 18 years of age
- •Healthy adults 19 - 35 years of age
- •Children and adults who have no medical conditions
- •Children and adults who currently free from any concurrent illness such as fever or cold
- •Subjects with GSD I:
- •Children 5 - 18 years of age who are diagnosed with GSD I
- •Adults 19 - 35 years of age who are diagnosed with GSD I
- •Clinically stable children and adults with GSD I with no concurrent illness such as fever, cold, vomiting or diarrhea
- •Children and adults with GSD I who have had the clinical decision made to start the extended release waxy maize cornstarch Glycosade®
排除标准
- •Experiment 1
- •Healthy adults above age 35 years
- •Adults who have a history of cardiovascular disease, liver or kidney disease, metabolic, pulmonary, gastrointestinal or endocrine disorder
- •Healthy adults but are currently ill with a fever, cold, vomiting or diarrhea
- •Healthy adults with claustrophobia
- •Healthy adults currently smoking or consuming more than one drink containing alcohol each day
- •Adults currently or recently taking medication or antibiotics
- •Experiment 2
- •Healthy Controls:
- •Healthy children under age 5 years
- •Healthy adults above age 35 years
- •Children and adults who have a history of cardiovascular disease, liver or kidney disease, metabolic, pulmonary, gastrointestinal or endocrine disorder
- •Healthy children and adults but are currently ill with a fever, cold, vomiting or diarrhea
- •Healthy children and adults with claustrophobia
- •Children and adults currently or recently taking medication or antibiotics
- •Healthy adults currently smoking or consuming more than one drink containing alcohol each day
- •Subjects with GSD I:
- •Children with GSD I under age 5 years
- •Adults with GSD I above age 35 years
- •Children and adults diagnosed with GSD I, but are currently ill with a fever, cold, vomiting or diarrhea
- •Children and adults diagnosed with GSD I, but where the clinical decision has been made not to start on Glycosade®
- •Children and adults with GSD I who have claustrophobia
- •Children and adults with GSD I currently or recently taking medication or antibiotics
- •Adults with GSD I currently smoking or consuming more than one drink containing alcohol each day
结局指标
主要结局
Glucose oxidation
时间窗: 4 hours
Breath sample will be collected during the study to measure the rate of oxidation of 13C glucose
次要结局
未报告次要终点
研究者
Rajavel Elango, PhD
Principal Investigator
University of British Columbia