phenotypeS in Non Ambulant Duchenne Muscular Dystrophy (GUP21003)

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

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

Treatments: Other: Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT06366815

4619

Details and patient eligibility

About

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

Full 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.

Enrollment: 250 estimated patients

Sex: Male

Ages: 8 to 35 years old

Volunteers: No Healthy Volunteers

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.