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.
Study Type
OBSERVATIONAL
Enrollment
250
clinical and functional data collection of non ambulant patients with Duchenne muscular dystrophy
IRCCS Eugenio Medea - Ass. "La Nostra Famiglia"
Bosisio Parini, Lc, Italy
RECRUITINGFondazione Policlinico Universitario A. Gemelli IRCCS
Roma, Italy
RECRUITINGmotor function
assessment of Upper Limb Motor function in all the patient at baseline, 6, 12 and 24 months
Time frame: 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
Time frame: 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
Time frame: 24 months
identify patterns of severity and of progression related to differnt genotypes
evaluation correlation genotype/phenotype
Time frame: 24 months
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