Exploring gait issues in rare genetic disorders
Identification of Gait Disorders in Children, Adolescents and Young Adults With Rare Genetic Diseases
This study is testing a new way to analyze walking problems in people with Tuberous Sclerosis Complex and STXBP1 Encephalopathy to see how serious their gait issues are.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 70 (estimated) |
| Ages | 6 Years to 25 Years |
| Sex | All |
| Sponsor | Universiteit Antwerpen Academic / other |
| Locations | 1 site (Antwerp) |
| Trial ID | NCT05161494 on ClinicalTrials.gov |
What this trial studies
This pilot study aims to investigate the feasibility of a 3D gait analysis protocol for individuals with Tuberous Sclerosis Complex and STXBP1 Encephalopathy. By recruiting 40 participants with Tuberous Sclerosis and 30 with STXBP1, the study will assess the severity of gait abnormalities and other kinematic parameters. The research builds on insights from the T-GaiD project, focusing on motor and gait problems associated with genetic disorders characterized by epilepsy and developmental delays. The study will take place at the M²OCEAN movement lab in Antwerp University Hospital.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 6 years or older diagnosed with Tuberous Sclerosis Complex who can walk without aids.
Not a fit: Patients experiencing severe epileptic seizures or those unable to cooperate for the gait analysis will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding and management of gait disorders in patients with rare genetic conditions.
How similar studies have performed: While this approach is based on previous findings from the T-GaiD project, the specific application to Tuberous Sclerosis and STXBP1 Encephalopathy is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Antwerp
- University of Antwerp — Antwerp, Belgium (Recruiting)
Study contacts
- Principal investigator: Anna Jansen, MD, PhD — University Hospital, Antwerp
- Study coordinator: Ann Hallemans, PhD
- Email: ann.hallemans@uantwerpen.be
- Phone: 032652912
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.