Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test

The aim of this study was to establish the possible effect of glucocorticoid treatment on upper limb function in a cohort of 91 non-ambulant DMD boys and adults of age between 11 and 26 years. All 91 were assessed using the Performance of Upper Limb test. Forty-eight were still on glucocorticoid after loss of ambulation, 25 stopped steroids at the time they lost ambulation and 18 were GC naive or had steroids while ambulant for less than a year. At baseline the total scores ranged between 0 and 74 (mean 41.20). The mean total scores were 47.92 in the glucocorticoid group, 36 in those who stopped at loss of ambulation and 30.5 in the naive group (p <0.001). The 12-month changes ranged between -20 and 4 (mean -4.4). The mean changes were -3.79 in the glucocorticoid group, -5.52 in those who stopped at loss of ambulation and -4.44 in the naive group. This was more obvious in the patients between 12 and 18 years and at shoulder and elbow levels. Our findings suggest that continuing glucocorticoids throughout teenage years and adulthood after loss of ambulation appears to have a beneficial effect on upper limb function. (C) 2015 The Authors. Published by Elsevier B.V

Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes

The 6 minute walk test has been recently chosen as the primary outcome measure in international multicenter clinical trials in Duchenne muscular dystrophy ambulant patients. The aim of the study was to assess the spectrum of changes at 3 years in the individual measures, their correlation with steroid treatment, age and 6 minute walk test values at baseline. Ninety-six patients from 11 centers were assessed at baseline and 12, 24 and 36 months after baseline using the 6 minute walk test and the North Star Ambulatory Assessment. Three boys (3%) lost the ability to perform the 6 minute walk test within 12 months, another 13 between 12 and 24 months (14%) and 11 between 24 and 36 months (12%). The 6 minute walk test showed an average overall decline of -15.8 (SD 77.3) m at 12 months, of -58.9 (SD 125.7) m at 24 months and -104.22 (SD 146.2) m at 36 months. The changes were significantly different in the two baseline age groups and according to the baseline 6 minute walk test values (below and above 350 m) (p<0.001). The changes were also significantly different according to steroid treatment (p = 0.01). Similar findings were found for the North Star Ambulatory Assessment. These are the first 36 month longitudinal data using the 6 minute walk test and North Star Ambulatory Assessment in Duchenne muscular dystrophy. Our findings will help not only to have a better idea of the progression of the disorder but also provide reference data that can be used to compare with the results of the long term extension studies that are becoming available

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

Expanded access program with Nusinersen in SMA type

6MWT (left pannel) and NSAA (right pannel) at baseline, 1, 2 and 3 years in DMD boys, subdivided according to a combination of age (below and above 7 years) and distance (below and above 350 m of 6MWD).

<p>6MWT (left pannel) and NSAA (right pannel) at baseline, 1, 2 and 3 years in DMD boys, subdivided according to a combination of age (below and above 7 years) and distance (below and above 350 m of 6MWD).</p

6MWT (left pannel) and NSAA (right pannel) at baseline, 1, 2 and 3 years in DMD boys, below (red) and above (blu) the age of 7 years.

<p>6MWT (left pannel) and NSAA (right pannel) at baseline, 1, 2 and 3 years in DMD boys, below (red) and above (blu) the age of 7 years.</p

Correlation between the changes at 3 years observed on the 6MWT (D6MWT3) and the NSAA (DNS3) and between the individual measures and age.

<p>**. Correlation is significant at the 0.01 level (2-tailed).</p><p>Correlation between the changes at 3 years observed on the 6MWT (D6MWT3) and the NSAA (DNS3) and between the individual measures and age.</p