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Крэйг М. МакДональд , профессор и глава реабилитации, профессор педиатрии PowerPoint PPT Presentation


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Исследование естественного течения, генотипических и фенотипических особенностей, признаков прогрессирования миодистрофии Дюшенна. Крэйг М. МакДональд , профессор и глава реабилитации, профессор педиатрии Университета Калифорнии. Переведено проектом МОЙМИО. Представители.

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Крэйг М. МакДональд , профессор и глава реабилитации, профессор педиатрии

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  • :

    • PTC Therapeutics

    • Acceleron / Shire

    • Prosensa

    • GSK

    • AVI Biopharma

    • Novartis

    • Halo Therapeutics



3


9


19 ()



  • , 45-53

    • ~65-72%

    • ~85 %

  • ,

    • ~25-30%

  • , 2-20

    • ~5-10%

    • ~13-15%



  • /

  • / /

  • /


Tuffery-Giraud , 2009,

  • 2,411 , 2,084 , 2,046

  • 96% 93% .


Magri , 2011, .

  • 320 (205 115 )

  • (, , ),


Magri , 2011, .

  • 320 (205 115 )

  • ( 45) ), , IQ (p = 0.005).

  • , (p = 0.0046).


Daguerre , 2009, .

  • n=75

  • ( , 20%): ;

  • B ( , 28%): ;

  • C ( , 22%):

  • D ( , 30%):


Daguerre , 2009, .

  • .

  • 30 D, / (IQ> 71: 7.7, 95%CI 1.6-20.4, p 0.003).

  • , " 2 " ( 0.93, 0.98).


-

  • (SPP1, OPN).

  • OPN .

  • (TT) (CQMS), (10 ) , (GT, GG)


- , .Eric P Hoffman, ElenaPegoraro, . FAMuSS CINRG - , , , , , (EP), , (), (PC), Davis (CMcD)


Flanigan . 2012

  • SPP1

  • (

  • )

  • , TGF , .


Flanigan . 2012

  • , A XXXXX 50% , B .

  • , , , 12.5 3.2 , , 10.5 2.2 .


CINRG


CINRG


CINRG .

  • :

    • 2-4 ( 5-60, , / ( ), ,

    • 5-30 - , > 5x - , , .

  • :

    • , , 16

    • , 13


  • : , , ,

  • : , 3, 6, 9, 12:

    • /

    • /

    • MRC MMT / (CINRG CQMT)

    • ( 10M )

    • Brooke / Vignos

    • (, 1, , MIP, MEP)

  • , 5

  • ~ 1700 - , .



  • ( <5-6)

  • NIDRR, NIAMS, PPMD


.




  • ( 10 )


12-18 10 .


4-6


, %


  • : . - . 14 (8-9) :476-82, 2004

  • 0,9 / /

    • 77% 15 0% ( )

    • 16% 90% ( )

    • 30%








(PTC AtalurenTrial)

  • 14 / 30 (46.7%) 48

  • 1 / 144 (0.7%) 48

  • P < 0.0001


.(4/)


4



10 6 .


6


12-18 10 .


% 6


% 6 (PRO 051 X 93 )


.

  • 2- . 3 ( , ) .


Neuromuscul Disord. 2007 Jun;17(6):470-5.


  • /


  • Brown et al. Spine 1989 14(7):763-70.

  • , , , 2- .

  • , .

  • Iannaccone ST et al. J Child Neurol. 2003 18(1):17-20.



, -


Merlini .

  • , , , 2-4 ().

  • 4 5 ( 2,4 4,0 ) , , .

  • 4 5 16

  • (3.01-4.77 SD )


  • CINRG

  • 13 - 18 , ( <2 SD )

  • 25/80 (31.2%) to 34/77

  • (44.1%) 24-.


( )

  • ?

  • ?


, (McDonald, Am J & R PM 1995)


. (McDonald, Am J PM&R 1995)


:

  • , /

  • , ( )

  • 160% .


  • -

  • - -


6 .

  • FDA 6 8-13%

    • 30 6

    • 10% 6

    • 50% 6


  • ? (, )


  • /


    • FVC, FEV1, PEFR, MIP, MEP

  • :

    • 50%

    • 30%


  • PedsQL

  • POSNA PODCI

  • (Pittsburgh)

  • SF-36

  • WHO QOL-BREF

  • NIFD


. .


, /


PRO (McDonald et al. Child Neurology 2010)


  • NIH

  • $ 1,4 . NIAMS CINRG , :

  • Northstar

  • 6

  • (NM-PedsQL; NeuroQoL)


NIH

  • N = 425 (100 )

  • ( = 100)

  • ( = 425, 4 )

    • -

  • /

  • (G-DOC)

  • CTSA


  • CINRG

  • (? )

  • /

  • /


MDA

  • ,



  • Funding Department of Education (NIDRR)

  • NIH (NICHD and NIAMS)

  • Department of Defense

  • PPMD

  • MDA



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