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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
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy | Other | clinical and functional data collection of non ambulant patients with Duchenne muscular dystrophy |
| Measure | Description | Time Frame |
|---|---|---|
| motor function | assessment of Upper Limb Motor function in all the patient at baseline, 6, 12 and 24 months | 24 months |
| respiratory function | 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 | 24 months |
| cardiac function | Assessment of ejection fraction through cardiac ultrasound at baseline and changes at follow up assessment at 6, 12 and 24 months | 24 months |
| Measure | Description | Time Frame |
|---|---|---|
| identify patterns of severity and of progression related to differnt genotypes | evaluation correlation genotype/phenotype | 24 months |
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Inclusion Criteria:
Exclusion Criteria:
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Population expected to be enrolled will include almost 250 patients affected from Duchenne Muscular Dystrophy with a confirmed genetic diagnosis and that have lost the ability to walk indipendently for more than 10 meters.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Marika Pane, Prof | Contact | 00390630156742 | marika.pane@policlinicogemelli.it | |
| Daniela Leone, MD | Contact | 00390630158821 | daniela.leone@policlinicogemelli.it |
| Name | Affiliation | Role |
|---|---|---|
| Marika Pane | Fondazione Policlinico Universitario Agostino Gemelli IRCCS | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS Eugenio Medea - Ass. "La Nostra Famiglia" | Recruiting | Bosisio Parini | Lc | 23842 | Italy |
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| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| Fondazione Policlinico Universitario A. Gemelli IRCCS | Recruiting | Roma | Italy |
|
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |