E xplo ra to ry o utc o me s in SMA type 2 a nd 3 L aur e nt Se - PowerPoint PPT Presentation

E xplo ra to ry o utc o me s in SMA type 2 a nd 3 L aur e nt Se r vais MD, PhD l.se r vais@institut- myologie .or g Centre de référence des maladies neuromusculaires Institut de Myologie Hôpital de la Citadelle, Liège, Belgique Hôpital de La Pitié Salpétrière, Paris, France

Co nflic t o f inte re st  PI in Ro c he a nd I o nis study  Co o rdina tio n o f Na tura l Histo ry study pa rtia lly funde d b y Ro c he  SAB o f Bio g e n, Ave xis a nd Ro c he .  Pa te nts in Ac timyo a nd myo to o ls, with no fina nc ia l inte re st

 Clinic a l  MRI  E le c tro physio lo g y

Ra tio na le : L e ve l a nd sig nific a nc e o f c ha ng e a s c a pture d b y c urre nt o utc o me o n a 1 ye a r pe rio d is lo w.

Cro ss-va lida tio n Re lia b ility

Se nsitivity to c ha ng e

F e a sib ility o f ma g ne to -ine rtia l mo tio n a na lysis in no n-a mb ula nt pa tie nts with spina l musc ula r a tro phy A. Se fe ria n 1¤ , E . Ga rg a un 1¤ , G. Quic ke 1 , T . Gida ro 1 , E . Ga snie r1 , A. Mo ra ux 1 , Y. Pé ré o n 2 , A. Da ro n 3 , C. Ca nc e s 4 , C. Vuille ro t 5 , N. Go e ma ns 6 , V. L a ug e l 7 , JM. Cuisse t 8 , U. Sc ha ra 9 , A. Ma rq ue t 10 , T . Se a b ro o k 10 , R. He rmo silla 10 , C. Cze c h 10 , G. Ra me y 10 , P. Jo rda n 10 , O. K hwa ja 10 , A. Cha b a no n 1 , M. Anno ussa my 1 , D. Vissie re 1 1, L . Se rva is 1 Ag e MF M F VC

Scaled Reaching Volume in SMA

14 pa tie nts with type 1-3 SMA. Musc le vo lume e stima tio n is hig hly re lia b le (r=0.99), a nd c o rre la te d with MUNE , CMAP a nd HMF SE . Musc le vo lume e stima tio n c o uld disc rimina te b e twe e n type 2 a nd 3, b ut this do e s no t re a c h sta tistic a l sig nific a nc e .

25 pa tie nts with SMA3b (o nse t fro m 4-18, me dia n 13) a fte r 10 ye a rs (1-13) o f e vo lutio n Co rre la tio n (r=0.7 fo r g lute us a nd 0.54 fo r tric e ps) b e twe e n MRI sc o re a nd dura tio n o f sympto ms

MUNE is hig hly disc rimina nt b e twe e n SMA a nd c o ntro ls, b ut is diffic ult to sta nda rdize o n a multic e nte r se tting .

K a ufma nn e t a l. 2012 CMAP is we ll c o rre la te d with HF MSE a nd MF M, is disc rimina nt b e twe e n SMA2 a nd 3, b ut no c ha ng e c o uld b e po inte d o ut o n a thre e ye a rs pe rio d. Cha b a no n e t a l. 2016

Summa ry  Clinic a l : -Myo to o ls (Re lia b le / Cro ss va lida te d/ se nsitive to c ha ng e / c linic a lly me a ning full/ no rma tive da ta ) -Ac time try (re lia b le , c ro ss va lida te d, c linic a lly me a ning full, se nsitivity to c hange to be e ss ) de monstr ate d, in pr ogr -Ac tive se a te d (re lia b le , c ro ss va lida te d, c linic a lly me a ning full, se nsitivity to c hange e ss ) to be de monstr ate d, in pr ogr  MRI -Vo lume a nd sc o re : re lia b le , c ro ss va lida te d, b ut fe w se nsitivity to c hange on the se par ame te r  E le c tro physio lo g y : Mo de ra te re lia b ility a nd fe a sib ility, c ro ss va lida te d, no se nsitivity to c hange up to now