Harmonic Ratio in Patients With GLUT1 Deficiency Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 32
- 试验地点
- 2
- 主要终点
- Comparison of Harmonic Ratio between patients and healthy controls at baseline
研究概览
简要总结
Glucose transporter deficiency syndrome type 1 (GLUT1DS) is a rare, genetically determined, neurometabolic disorder .
It is estimated that about 90% of affected patients present various pathological gait patterns. Ataxic, spastic, ataxo-spastic, or dystonic walking are the main manifestations described to date.
The kinematic gait analysis with inertial sensors represents a method that is easily applicable in clinical practice, with possible application in numerous neurological syndromes of the pediatric and adult age.
Through the kinematic gait analysis, it will be possible to obtain an accurate characterization of the gait of patients with GLUT1DS. This will allow, in the first place, a better knowledge of locomotor parameters in this rare cohort of patients. Given that kinematic analysis through a wearable sensor is a method that can be easily integrated into daily clinical practice, the data obtained could become prognostic biomarkers and significant outcome measures of the disease (also in relation to possible improvements deriving from treatment with a ketogenic diet or in the context of future pharmacological trials).
详细描述
Glucose transporter deficiency syndrome type 1 (GLUT1DS) is a rare, genetically determined, neurometabolic disorder. The recently estimated incidence is around 1.65-2.22/100,000. GLUT1 deficiency syndrome is caused by the presence of pathogenic mutations in the SLC2A1 gene, whose haploinsufficiency leads to a reduced availability of glucose in the brain with repercussions on brain function. Ketogenic dietary therapies (KDT) - diets with a high fat content, reduced carbohydrate content and adequate protein content - represent the current standard of treatment for the syndrome: ketone bodies cross the blood-brain barrier and are an alternative energy source for brain metabolism.
It is estimated that about 90% of affected patients present various pathological gait patterns. Ataxic, spastic, ataxo-spastic, or dystonic walking are the main manifestations described to date.
The kinematic gait analysis with inertial sensors represents a method that is easily applicable in clinical practice, with possible application in numerous neurological syndromes of the pediatric and adult age. A single device worn at the lumbar level can accurately measure spatio-temporal parameters of gait. Moreover, with this tool it is possible to assess several Trunk Inertial Indexes. In particular, the Harmonic Ratio (HR), is a representative index of the fluidity and rhythmicity of gait cycle. Along with the largest Lyapunov exponent (LLE), which is a validated method to quantify gait stability in young and old adults, these are reliable parameter to evaluate any gait alterations in the neurological patient.
Through the kinematic gait analysis, it will be possible to obtain an accurate characterization of the gait of patients with GLUT1DS. This will allow, in the first place, a better knowledge of locomotor parameters in this rare cohort of patients. Given that kinematic analysis through a wearable sensor is a method that can be easily integrated into daily clinical practice, the data obtained could become prognostic biomarkers and significant outcome measures of the disease (also in relation to possible improvements deriving from treatment with a ketogenic diet or in the context of future pharmacological trials).
Finally, the identification of a characteristic gait pattern could facilitate the setting up of ad hoc neuromotor rehabilitation activities that are as personalized as possible.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Years 至 60 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Pediatric and adult patients (range 3-60 years) diagnosed with GLUT1 deficiency syndrome according to the recommendations of the International Study Group (Klepper et al., 2020)
- •Ability to walk independently the necessary route
- •Compliance with study procedures
排除标准
- •Presence of other neurological or orthopedic comorbidities that may influence gait assessment
- •Poor compliance with study procedures
- •Healthy controls eligibility criteria:
- •Inclusion Criteria:
- •Typically developing healthy volunteers
- •Age range 3-60 years
- •Exclusion criteria:
- •Presence of neurological or orthopedic comorbidities that may influence gait assessment
结局指标
主要结局
Comparison of Harmonic Ratio between patients and healthy controls at baseline
时间窗: Single evaluation at baseline (V1)
The primary outcome will be the difference in Harmonic Ratio (HR - continuous variable, without unit of measurement) between patients and healthy controls at baseline
Comparison of largest Lyapunov exponent between patients and healthy controls at baseline
时间窗: Single evaluation at baseline (V1)
A co-primary outcome will be the difference in largest Lyapunov exponent (LLE - continuous variable, without unit of measurement) between patients and healthy controls at baseline
次要结局
- Comparison of largest Lyapunov exponent in patients between subsequent visits(Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5))
- Comparison of coefficient of variation between patients and healthy controls at baseline(Single evaluation at baseline (V1))
- Comparison of normalized jerk score between patients and healthy controls at baseline(Single evaluation at baseline (V1))
- Comparison of Multiscale entropy between patients and healthy controls at baseline(Single evaluation at baseline (V1))
- Comparison of Harmonic Ratio in patients between subsequent visits(Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5))
- Comparison of recurrence quantification analysis between patients and healthy controls at baseline(Single evaluation at baseline (V1))
- Comparison of recurrence quantification analysis in patients between subsequent visits(Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5))
- Comparison of coefficient of variation in patients between subsequent visits(Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5))
- Comparison of normalized jerk score in patients between subsequent visits(Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5))
- Comparison of Multiscale entropy in patients between subsequent visits(Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5))