Inertial gait analysis: All groups will be evaluated with inertial gait analysis
Study summary
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).
Eligibility
Sex
ALL
Min age
3 Years
Max age
60 Years
Healthy volunteers
Accepted
Patients eligibility criteria
Inclusion Criteria:
* 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
Exclusion Criteria:
* 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
Primary outcome measure(s)
Comparison of Harmonic Ratio between patients and healthy controls at baseline — 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 — 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
Trial sites (2)
Facility
City
Region
Status
Child and Adolescent Epileptology Center
Pavia
Italy
Headache Science & Neurorehabilitation Center
Pavia
Italy
More IRCCS National Neurological Institute "C. Mondino" Foundation trials in Italy
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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