The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F13%3A00069941" target="_blank" >RIV/00216224:14110/13:00069941 - isvavai.cz</a>

Výsledek na webu

<a href="http://dx.doi.org/10.1002/humu.22390" target="_blank" >http://dx.doi.org/10.1002/humu.22390</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/humu.22390" target="_blank" >10.1002/humu.22390</a>

Jazyk výsledku

angličtina

Název v původním jazyce

The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia

Popis výsledku v původním jazyce

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence &lt;5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determinepatient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD.

Název v anglickém jazyce

The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia

Popis výsledku anglicky

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence &lt;5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determinepatient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Human Mutation

ISSN

1059-7794

e-ISSN

—

Svazek periodika

34

Číslo periodika v rámci svazku

11

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

9

Strana od-do

1449-1457

Kód UT WoS článku

000325426900001

EID výsledku v databázi Scopus

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