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Harmonic Ratio in Patients With GLUT1 Deficiency Syndrome

NCT05887739 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 32

Last updated 2024-04-30

No results posted yet for this 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).

Conditions

  • GLUT1DS1
  • Dystonia
  • Gait Disorders, Neurologic
  • Gait Ataxia

Interventions

DIAGNOSTIC_TEST

Inertial gait analysis

All groups will be evaluated with inertial gait analysis

Sponsors & Collaborators

  • University of Roma La Sapienza

    collaborator OTHER

  • IRCCS National Neurological Institute "C. Mondino" Foundation

    lead OTHER

Principal Investigators

  • Roberto De Icco · IRCCS, Mondino Foundation

  • Valentina De Giorgis · IRCCS, Mondino Foundation

Eligibility

Min Age
3 Years
Max Age
60 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-01-01
Primary Completion
2024-12-31
Completion
2026-12-31

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05887739 on ClinicalTrials.gov