Clinical trial · Observational
Gait in Rare Diseases
Identification of Gait Disorders in Children, Adolescents and Young Adults With Rare Genetic Diseases
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The aim of this pilot study is to explore whether the knowledge and experience gained during the T-GaiD project (Treatment of Gait Disorders in Dravet Syndrome - NCT03857451) can be transferred to other populations with similar problems, i.e. motor and gait problems as a result of a genetic disorder characterized by epilepsy and developmental delay. In this pilot study, 40 people with Tuberous Sclerosis Complex and 30 people with STXBP1 will be recruited via the Antwerp University Hospital and invited for a gait analysis in the M²OCEAN movement lab. The aim of the pilot study is to evaluate the feasibility of the 3D gait analysis protocol and to determine the sensitivity of the primary (summative measure of the severity of gait abnormalities) and the secondary (spatio-temporal and kinematic gait parameters) outcome measures.
Conditions
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| STXBP1 Encephalopathy With Epilepsy | — | UNRESOLVED | — |
| Tuberous Sclerosis | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Gait Profile Score (degrees)
- timeFrame
- baseline (at intake)
- description
- To obtain a summary index of overall gait pathology, the Gait Profile Score will be calculated based on nine relevant lower limb joint angular time profiles collected during 3D gait analysis. These are anterior pelvic tilt, pelvic list, pelvic rotation, hip flexion and extension, hip ad- and abduction, hip rotation, knee flexion and extension, ankle dorsi- and plantar flexion and the foot progression angle. The gait profile score provides the average root mean squared error of the joint angular time profile with respect to normal walking and is presented in degrees. Higher values indicate a larger deviations from normal gait.
Secondary outcomes (3)
- measure
- Lower limb kinematics during walking (degrees)
- timeFrame
- baseline (at intake)
- description
- The gait pattern is assessed by instrumented 3D gait analysis using the standardized Vicon Clinical Gait Model. Joint rotation angles of the major joints of the lower limbs will be described during walking.
- measure
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 6 Years
- Maximum age
- 25 Years
Show eligibility criteria text
Inclusion Criteria: * diagnosed with tuberous sclerosis complex according to the criteria of Northrup et al. (2012) * aged 6 years or older * being able to walk without aids for a minimum distance of 6 meters Exclusion Criteria: * severe epileptic seizure (status epilepticus or tonic-clonic insult over 3 min) within the 24 hours before the assessment * insufficient cooperation to perform 3D gait analysis
References
Publications (11)
- BACKGROUNDDallmeijer AJ, Scholtes VA, Becher J, Roorda LD. Measuring mobility limitations in children with cerebral palsy: Rasch model fit of a mobility questionnaire, MobQues28. Arch Phys Med Rehabil. 2011 Apr;92(4):640-5. doi: 10.1016/j.apmr.2010.11.002. PMID 21440711
- BACKGROUNDDesloovere K, Molenaers G, Feys H, Huenaerts C, Callewaert B, Van de Walle P. Do dynamic and static clinical measurements correlate with gait analysis parameters in children with cerebral palsy? Gait Posture. 2006 Nov;24(3):302-13. doi: 10.1016/j.gaitpost.2005.10.008. Epub 2005 Nov 21. PMID 16303305
- BACKGROUNDGraham HK, Harvey A, Rodda J, Nattrass GR, Pirpiris M. The Functional Mobility Scale (FMS). J Pediatr Orthop. 2004 Sep-Oct;24(5):514-20. doi: 10.1097/00004694-200409000-00011. PMID 15308901
- BACKGROUNDHallemans A, Beccu S, Van Loock K, Ortibus E, Truijen S, Aerts P. Visual deprivation leads to gait adaptations that are age- and context-specific: I. Step-time parameters. Gait Posture. 2009 Jul;30(1):55-9. doi: 10.1016/j.gaitpost.2009.02.018. Epub 2009 Apr 1. PMID 19342241
- BACKGROUNDHallemans A, Beccu S, Van Loock K, Ortibus E, Truijen S, Aerts P. Visual deprivation leads to gait adaptations that are age- and context-specific: II. Kinematic parameters. Gait Posture. 2009 Oct;30(3):307-11. doi: 10.1016/j.gaitpost.2009.05.017. Epub 2009 Jun 27. PMID 19560925
- BACKGROUNDHallemans A, Verbecque E, Dumas R, Cheze L, Van Hamme A, Robert T. Developmental changes in spatial margin of stability in typically developing children relate to the mechanics of gait. Gait Posture. 2018 Jun;63:33-38. doi: 10.1016/j.gaitpost.2018.04.019. Epub 2018 Apr 18. PMID 29705520
- BACKGROUNDKadaba MP, Ramakrishnan HK, Wootten ME. Measurement of lower extremity kinematics during level walking. J Orthop Res. 1990 May;8(3):383-92. doi: 10.1002/jor.1100080310.