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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


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3


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9


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19 ()


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  • , 45-53

    • ~65-72%

    • ~85 %

  • ,

    • ~25-30%

  • , 2-20

    • ~5-10%

    • ~13-15%


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  • /

  • / /

  • /


Tuffery giraud 2009

Tuffery-Giraud , 2009,

  • 2,411 , 2,084 , 2,046

  • 96% 93% .


Magri 2011

Magri , 2011, .

  • 320 (205 115 )

  • (, , ),


Magri 20111

Magri , 2011, .

  • 320 (205 115 )

  • ( 45) ), , IQ (p = 0.005).

  • , (p = 0.0046).


Daguerre 2009

Daguerre , 2009, .

  • n=75

  • ( , 20%): ;

  • B ( , 28%): ;

  • C ( , 22%):

  • D ( , 30%):


Daguerre 20091

Daguerre , 2009, .

  • .

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

  • , " 2 " ( 0.93, 0.98).


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-

  • (SPP1, OPN).

  • OPN .

  • (TT) (CQMS), (10 ) , (GT, GG)


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


Flanigan 2012

Flanigan . 2012

  • SPP1

  • (

  • )

  • , TGF , .


Flanigan 20121

Flanigan . 2012

  • , A XXXXX 50% , B .

  • , , , 12.5 3.2 , , 10.5 2.2 .


Cinrg

CINRG


Cinrg1

CINRG


Cinrg2

CINRG .

  • :

    • 2-4 ( 5-60, , / ( ), ,

    • 5-30 - , > 5x - , , .

  • :

    • , , 16

    • , 13


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  • : , , ,

  • : , 3, 6, 9, 12:

    • /

    • /

    • MRC MMT / (CINRG CQMT)

    • ( 10M )

    • Brooke / Vignos

    • (, 1, , MIP, MEP)

  • , 5

  • ~ 1700 - , .


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  • ( <5-6)

  • NIDRR, NIAMS, PPMD


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.


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  • ( 10 )


12 18 10

12-18 10 .


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4-6


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, %


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  • : . - . 14 (8-9) :476-82, 2004

  • 0,9 / /

    • 77% 15 0% ( )

    • 16% 90% ( )

    • 30%


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Ptc ataluren trial

(PTC AtalurenTrial)

  • 14 / 30 (46.7%) 48

  • 1 / 144 (0.7%) 48

  • P < 0.0001


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.(4/)


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4


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10 6 .


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6


12 18 101

12-18 10 .


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% 6


6 pro 051 x 93

% 6 (PRO 051 X 93 )


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.

  • 2- . 3 ( , ) .


Neuromuscul disord 2007 jun 17 6 470 5

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


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  • /


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

  • , , , 2- .

  • , .

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


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, -


Merlini

Merlini .

  • , , , 2-4 ().

  • 4 5 ( 2,4 4,0 ) , , .

  • 4 5 16

  • (3.01-4.77 SD )


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  • CINRG

  • 13 - 18 , ( <2 SD )

  • 25/80 (31.2%) to 34/77

  • (44.1%) 24-.


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( )

  • ?

  • ?


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, (McDonald, Am J & R PM 1995)


Mcdonald am j pm r 1995

. (McDonald, Am J PM&R 1995)


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:

  • , /

  • , ( )

  • 160% .


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  • -

  • - -


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6 .

  • FDA 6 8-13%

    • 30 6

    • 10% 6

    • 50% 6


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  • ? (, )


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  • /


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    • FVC, FEV1, PEFR, MIP, MEP

  • :

    • 50%

    • 30%


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  • PedsQL

  • POSNA PODCI

  • (Pittsburgh)

  • SF-36

  • WHO QOL-BREF

  • NIFD


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. .


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, /


Pro mcdonald et al child neurology 2010

PRO (McDonald et al. Child Neurology 2010)


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  • NIH

  • $ 1,4 . NIAMS CINRG , :

  • Northstar

  • 6

  • (NM-PedsQL; NeuroQoL)


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NIH

  • N = 425 (100 )

  • ( = 100)

  • ( = 425, 4 )

    • -

  • /

  • (G-DOC)

  • CTSA


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  • CINRG

  • (? )

  • /

  • /


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MDA

  • ,


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  • Funding Department of Education (NIDRR)

  • NIH (NICHD and NIAMS)

  • Department of Defense

  • PPMD

  • MDA


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