The importance of RWE in SMA (Rare diseases) and the importance of registries

With the growing body of evidence and an evolving treatment landscape, the classification of subtypes needs a revision and Real-World Evidence becomes more and more important.

In this video you can hear Prof. Eugenio Mercuri's perspective on the current paradigm shift in SMA, the meaning of Real-World Evidence beyond clinical trials and why it is important to see the efficacy of a treatment in relation to natural history.

 

 

 

Prof. Eugenio Mercuri

Paediatric Neurology and Psychiatry Unit, Gemelli Hospital Catholic University Foundation, Rome, Italy

Eugenio Mercuri is Professor of Paediatric Neurology at the Catholic University, Rome, Italy, where he specialises in neonatal neurology and is the Director of the Department of women, children and public health sciences at Fondazione Policlinico Universitario Agostino Gemelli IRCCS. Professor Mercuri received his medical degree from the University of Messina (Medicine and Surgery), and between 1987 and 1991 he specialised in paediatric neurology and child psychiatry. He completed his PhD in Developmental Neurosciences at the Catholic University, Rome, in 1995. He has currently authored or co-authored over 550 publications in the field of paediatric neurology.

 

Biogen-190999 november 2022

 

SMA type 3: Treated vs untreated (Pera et al 2021)

After the age of 7 there were significant difference between treated and untreated patients (mean 12-month change (SD) in HFMSE score:

8-14 years: 0,53 (3,31) vs -2,46 (4,55) p < 0,0001

15-19 years: 0,91 (5,19) vs -1,61 (3,75) p = 0,024

>20 years: 1,02 (3,47) vs -1,65 (3,42) p < 0,0001

Before the age of 7 years the difference did not reach significance.

The analysis of this data, should however be interpreted with caution due to clinical heterogeneity of SMA type 3 and number of variables such as wide age range, age of onset, functional status etc.

 

 

Tid: 11:06
Bild: Från filmen


Biogen-194281 december 2022
Senast uppdaterad: 2022-12-21

 

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