Observational Study to Observe Variations of Gait Parameters in Patients with Neuromuscular Diseases

Launched by IRCCS EUGENIO MEDEA · Oct 29, 2024

Keywords

ClinConnect Summary

This clinical trial is looking to understand how walking is affected in people with neuromuscular diseases like muscular dystrophies, spinal muscular atrophy, and Charcot-Marie-Tooth disease. The researchers want to see how fatigue impacts walking by observing patients during tests. They will also use a special wearable sensor to track physical activity over a week to gather more information about how these patients move in their everyday lives.

To participate in this study, you need to be an adult who can walk, even if you require some assistance, and have a confirmed genetic diagnosis of one of the mentioned neuromuscular diseases. The trial is currently recruiting participants, and anyone interested should be aware that there are some health conditions, like certain heart issues and severe breathing problems, that would prevent them from taking part. If eligible, participants can expect to take part in walking tests and wear a sensor that monitors their activity for a week.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Ambulant adult patients with genetic diagnosis of muscular dystrophy/myopathy (dystrophinopathies, muscular dystrophies and congenital and non-congenital myopathies), of spinal muscular atrophy (SMA) and with molecular diagnosis of Charcot-Marie Tooth 1 or 2.
• • independent walking, even with assistance;
• Exclusion Criteria:
• • Dilated or ischemic heart disease with moderate impairment;
• • Chronic respiratory failure: forced vital capacity (FVC) \< 40%; more than 5% of nocturnal time spent with peripheral oxygen saturation levels \< 90.