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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.

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

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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