Harmonic Ratio in Patients With GLUT1 Deficiency Syndrome
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ClinicalTrials.gov Identifier: NCT05887739 |
Recruitment Status :
Active, not recruiting
First Posted : June 5, 2023
Last Update Posted : April 30, 2024
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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).
Condition or disease | Intervention/treatment |
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GLUT1DS1 Dystonia Gait Disorders, Neurologic Gait Ataxia | Diagnostic Test: Inertial gait analysis |
Study Type : | Observational |
Actual Enrollment : | 32 participants |
Observational Model: | Case-Control |
Time Perspective: | Prospective |
Official Title: | Harmonic Ratio in Patients With GLUT1 Deficiency Syndrome |
Actual Study Start Date : | January 1, 2023 |
Estimated Primary Completion Date : | December 31, 2024 |
Estimated Study Completion Date : | December 31, 2026 |
Group/Cohort | Intervention/treatment |
---|---|
GLUT1DS
Patients affected by GLUT1 deficiency syndrome
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Diagnostic Test: Inertial gait analysis
All groups will be evaluated with inertial gait analysis |
Healthy controls
Age and sex matched healthy controls
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Diagnostic Test: Inertial gait analysis
All groups will be evaluated with inertial gait analysis |
- Comparison of Harmonic Ratio between patients and healthy controls at baseline [ Time Frame: 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 [ Time Frame: 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
- Comparison of coefficient of variation between patients and healthy controls at baseline [ Time Frame: Single evaluation at baseline (V1) ]A secondary outcome will be the difference in coefficient of variation (CV - continuous variable, without unit of measurement) between patients and healthy controls at baseline
- Comparison of normalized jerk score between patients and healthy controls at baseline [ Time Frame: Single evaluation at baseline (V1) ]A secondary outcome will be the difference in log dimensionless jerk score (LDLJ - continuous variable, without unit of measurement) between patients and healthy controls at baseline
- Comparison of recurrence quantification analysis between patients and healthy controls at baseline [ Time Frame: Single evaluation at baseline (V1) ]A secondary outcome will be the difference in recurrence quantification analysis (RQA - continuous variable, without unit of measurement) between patients and healthy controls at baseline
- Comparison of Multiscale entropy between patients and healthy controls at baseline [ Time Frame: Single evaluation at baseline (V1) ]A secondary outcome will be the difference in Multiscale entropy (MSE - continuous variable, without unit of measurement) between patients and healthy controls at baseline
- Comparison of Harmonic Ratio in patients between subsequent visits [ Time Frame: Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5) ]A secondary outcome will be the difference in Harmonic Ratio in patients between the baseline and subsequent visits
- Comparison of coefficient of variation in patients between subsequent visits [ Time Frame: Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5) ]A secondary outcome will be the difference in coefficient of variation in patients between the baseline and subsequent visits
- Comparison of normalized jerk score in patients between subsequent visits [ Time Frame: Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5) ]A secondary outcome will be the difference in log dimensionless jerk score in patients between the baseline and subsequent visits
- Comparison of largest Lyapunov exponent in patients between subsequent visits [ Time Frame: Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5) ]A secondary outcome will be the difference in largest Lyapunov exponent in patients between the baseline and subsequent visits
- Comparison of recurrence quantification analysis in patients between subsequent visits [ Time Frame: Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5) ]A secondary outcome will be the difference in recurrence quantification analysis in patients between the baseline and subsequent visits
- Comparison of Multiscale entropy in patients between subsequent visits [ Time Frame: Change from baseline (V1) to 6 months after (V2) to 12 months after (V3) to 18 months after (V4) to 24 months after (V5) ]A secondary outcome will be the difference in Multiscale entropy in patients between the baseline and subsequent visits
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Ages Eligible for Study: | 3 Years to 60 Years (Child, Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Patients affected by GLUT1 deficiency syndromes will be enrolled by attending our clinic at the IRCCS Mondino Foundation.
Healthy controls will be age and sex matched people among relatives and caregivers of the patients attending our clinic.
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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05887739
Italy | |
Child and Adolescent Epileptology Center | |
Pavia, Italy, 27100 | |
Headache Science & Neurorehabilitation Center | |
Pavia, Italy, 27100 |
Principal Investigator: | Roberto De Icco | IRCCS, Mondino Foundation | |
Principal Investigator: | Valentina De Giorgis | IRCCS, Mondino Foundation |
Responsible Party: | IRCCS National Neurological Institute "C. Mondino" Foundation |
ClinicalTrials.gov Identifier: | NCT05887739 |
Other Study ID Numbers: |
Gait analysis in GLUT1DS |
First Posted: | June 5, 2023 Key Record Dates |
Last Update Posted: | April 30, 2024 |
Last Verified: | April 2024 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Dystonia Nervous System Diseases Gait Disorders, Neurologic Gait Ataxia |
Ataxia Dyskinesias Neurologic Manifestations |