Duchenne Muscular Dystrophy, Motor Function; Retardation, Natural History
Conditions
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.
Interventions
OTHERDifferent Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy
clinical and functional data collection of non ambulant patients with Duchenne muscular dystrophy
Sponsors
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
8 Years to 35 Years
Healthy volunteers
No
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
.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| identify patterns of severity and of progression related to differnt genotypes | 24 months | evaluation correlation genotype/phenotype |
Countries
Italy
Contacts
Primary ContactMarika Pane, Prof
Backup ContactDaniela Leone, MD
Outcome results
None listed