phenotypeS in Non Ambulant Duchenne Muscular Dystrophy

Recruiting

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

• Registration Number: NCT06366815
• Lead Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Brief 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.

Study Timeline

• Study Start: 2022-08-30
• Study First Submitted: 2023-02-08
• Study First Submitted QC: 2024-04-10
• Study First Posted: 2024-04-16
• Primary Completion: 2024-09-30
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-03
• Last Update Posted: 2024-10-04
• Study Completion: 2025-12-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Male
• Target Recruitment: 250

Inclusion Criteria

• Children with genetically confirmed diagnosis of Duchenne Muscular Dystrophy will be included in the study. We will include all Duchenne Muscular Dystrophy boys who have lost the ability to walk independently.
• All patients in whom consent can be obtained will be enrolled with no exclusion criteria.

Exclusion Criteria

• Patients lacking genetic confirmation of Duchenne Muscular Dystrophy
• Patients still able to walk for more than 10 meters.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
motor function	24 months	assessment of Upper Limb Motor function in all the patient at baseline, 6, 12 and 24 months
respiratory function	24 months	Assessment of respiratory function, in particular Forced Vital Capacity at baseline, 6, 12 and 24 months in all the patients able to perform the test. Registration of need for ventilation and hours of ventilation needed at each assessment
cardiac function	24 months	Assessment of ejection fraction through cardiac ultrasound at baseline and changes at follow up assessment at 6, 12 and 24 months

Secondary Outcome Measures

Name	Time	Method
identify patterns of severity and of progression related to differnt genotypes	24 months	evaluation correlation genotype/phenotype

Trial Locations

Locations (2)

IRCCS Eugenio Medea - Ass. "La Nostra Famiglia"; 🇮🇹 Bosisio Parini, Lc, Italy

Fondazione Policlinico Universitario A. Gemelli IRCCS; 🇮🇹 Roma, Italy