NCT06366815

phenotypeS in Non Ambulant Duchenne Muscular Dystrophy

Characterizing Phenothypes in Non Ambulant Duchenne Muscular Dystrophy

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 250 (estimated)
• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Academic / Other
• Sex: Male
• Age: 8 Years – 35 Years
• Healthy volunteers: Not accepted

Summary

The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function

Detailed description

The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function, to retrospectively review similar information on the data collected in the last decade and to establish the effect of steroids after loss of ambulation on different aspects of function. We also aim to use this integrated approach to identify patterns of severity and progression, the most appropriate outcome measures and endpoints in each group and possible genotype/phenotype correlations.

Conditions

• Duchenne Muscular Dystrophy
• Natural History
• Motor Function; Retardation

Interventions

Type	Name	Description
OTHER	Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy	clinical and functional data collection of non ambulant patients with Duchenne muscular dystrophy

Timeline

• Start date: 2022-08-30
• Primary completion: 2024-09-30
• Completion: 2025-12-30
• First posted: 2024-04-16
• Last updated: 2024-10-04

Locations

2 sites across 1 country: Italy