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GLYCODIS3

Genetic correction of glycogen debranching enzyme deficiency in Glycogen Storage disease III: a proof of concept study

Total Cost €

0

EC-Contrib. €

0

Partnership

0

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 GLYCODIS3 project word cloud

Explore the words cloud of the GLYCODIS3 project. It provides you a very rough idea of what is the project "GLYCODIS3" about.

storage    significantly    recessive    inevitable    alternative    expression    ips    limitations    disease    strategies    cure    leads    recombinogenic    therapies    myocites    lacking    therapy    genomes    autosomal    accumulation    treat    fit    adeno    pluripotent    bp    vivo    proof    carbohydrates    patients    myopathy    vitro    treatment    models    generate    mouse    aav    morbidity    cells    dual    length    successfully    frequent    gene    5kb    glucose    full    reconstitution    correction    meals    truncated    diseases    ultimately    human    slows    perform    consisting    transgene    vector    constitutive    supply    glycogen    progression    debranching    humans    rescue    sequence    drive    engineered    opportunity    gsd    muscle    metabolism    virus    mediated    strategy    therapeutic    model    vectors    genetic    hepatocytes    liver    animal    differentiated    gde    rare    progressive    successively    pathology    recapitulates    enzyme    ko    single    dietary    4596    fibroblast    larger    deficiency    disorder   

Project "GLYCODIS3" data sheet

The following table provides information about the project.

Coordinator
ASSOCIATION GENETHON 

Organization address
address: RUE DE L INTERNATIONALE 1 BIS
city: EVRY
postcode: 91002
website: www.genethon.fr

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country France [FR]
 Project website http://www.genethon.fr/en/
 Total cost 173˙076 €
 EC max contribution 173˙076 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2014
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2016
 Duration (year-month-day) from 2016-01-01   to  2017-12-31

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    ASSOCIATION GENETHON FR (EVRY) coordinator 173˙076.00

Map

 Project objective

Glycogen storage disease III (GSD III) is a rare (1:100,000) autosomal recessive disorder that results from the deficiency of the glycogen debranching enzyme (GDE). The major cause of morbidity is associated with the muscle accumulation of glycogen, which leads to progressive myopathy. A dietary treatment with frequent meals high in carbohydrates, slows the progression of the pathology that is however inevitable. There is no cure for GSD III, the recent development of a mouse model lacking GDE activity, which recapitulates the human condition, represents a unique opportunity to develop and test novel therapies for the disease. Here, we propose to perform a proof-of-concept study of an adeno-associated virus (AAV) vector-mediated gene therapy for the treatment of GSD III. AAV gene therapy has been successfully used for the correction of several genetic diseases in animal models and humans. One of the main limitations of AAV vectors is that they cannot package vector genomes significantly larger than 5kb. Due to the length of the sequence of the GDE enzyme (4596 bp), we engineered a dual-vector system with a recombinogenic sequence to drive reconstitution of the full-length GDE sequence. In alternative to this strategy, we engineered also a truncated GDE that can fit in a single AAV. Because GSD III is both a liver and muscle diseases, and because the liver is involved in glycogen metabolism and, ultimately, in the supply of glucose to the muscle, we will test two main therapeutic strategies to treat GSD III, consisting of constitutive or liver-specific expression of the transgene. The rescue of the GDE enzyme deficiency will be carried out in vivo in a GDE KO mouse, and in vitro in human iPS cells-derived hepatocytes and myocites. We will generate fibroblast-derived iPS cells from GSD III patients and the pluripotent cells will be successively differentiated in hepatocytes and myocites.

 Publications

year authors and title journal last update
List of publications.
2017 Francesco Puzzo, Pasqualina Colella, Maria G. Biferi, Deeksha Bali, Nicole K. Paulk, Patrice Vidal, Fanny Collaud, Marcelo Simon-Sola, Severine Charles, Romain Hardet, Christian Leborgne, Amine Meliani, Mathilde Cohen-Tannoudji, Stephanie Astord, Bernard Gjata, Pauline Sellier, Laetitia van Wittenberghe, Alban Vignaud, Florence Boisgerault, Martine Barkats, Pascal Laforet, Mark A. Kay, Dwight D. Koeberl, Giuseppe Ronzitti, Federico Mingozzi
Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase
published pages: eaam6375, ISSN: 1946-6234, DOI: 10.1126/scitranslmed.aam6375
Science Translational Medicine 9/418 2019-06-14
2018 Pasqualina Colella, Giuseppe Ronzitti, Federico Mingozzi
Emerging Issues in AAV-Mediated In Vivo Gene Therapy
published pages: 87-104, ISSN: 2329-0501, DOI: 10.1016/j.omtm.2017.11.007
Molecular Therapy - Methods & Clinical Development 8 2019-06-14
2018 Giuseppe Ronzitti, Federico Mingozzi
Combination Therapy Is the New Gene Therapy?
published pages: 12-14, ISSN: 1525-0016, DOI: 10.1016/j.ymthe.2017.12.008
Molecular Therapy 26/1 2019-06-14

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