Gait in Rare Diseases

Launched by UNIVERSITEIT ANTWERPEN · Dec 16, 2021

Keywords

ClinConnect Summary

This clinical trial, called "Gait in Rare Diseases," is investigating how well a special 3D analysis can help understand and measure walking difficulties in people with Tuberous Sclerosis Complex and STXBP1 Encephalopathy with Epilepsy. Researchers want to see if the techniques used in a previous study on Dravet Syndrome can also apply to these conditions. They are looking to recruit a total of 70 participants, including 40 people with Tuberous Sclerosis and 30 with STXBP1, who are at least 6 years old and can walk without help for a distance of at least 6 meters.

During the study, participants will undergo a gait analysis at the M²OCEAN movement lab at the Antwerp University Hospital. This means they will be observed walking in a way that helps researchers understand their movement patterns and the severity of any walking problems. It's important to note that individuals who have had a severe seizure recently or cannot cooperate for the analysis won't be eligible to participate. Through this pilot study, the researchers hope to learn more about how to help people with these genetic conditions improve their walking abilities.

Gender

ALL

Eligibility 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