Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE)

Laboratory presentation

INTEGRARE (Integrated Genetic Approaches and New Therapies for Rare Diseases, UMR_S951) is a research unit specializing in translational research and gene therapy of rare genetic diseases. The unit is mainly interested in myopathies, metabolic diseases, blood diseases or immune deficiency. Using recombinant viral vectors (AAV and lentiviral vectors) or CRISPR technologies, researchers design novel therapeutic approaches, defining the pharmacological parameters and the safety of the approaches, and study how to overcome the roadblocks notably to avoid immune responses to gene therapy.
Promising therapeutic candidates are developed towards the clinic through Genethon's therapeutic programs. Several clinical trials of gene therapy are currently underway.
INTEGRARE is a partnership between Généthon, (a private R et D organization created by AFM / Téléthon), Inserm and the Universities (University of Evry / Paris Saclay University, EPHE).

The 20 latest publications

Title Authors Publication date Source
Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy Elena Barbon, Giuseppe Ronzitti, Federico Mingozzi 03/01/24 Molecular Metabolism
The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research Anna Buj-Bello 02/01/24 Neuromuscular Disorders
A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III Lucille Rossiaud, Xavier Nissan, Lucile Hoch 01/16/24 Journal of Clinical Investigation
Successful treatment of severe MSUD in Bckdhb<sup>−/−</sup> mice with neonatal AAV gene therapy Pasqualina Colella, Federico Mingozzi 01/01/24 Journal of Inherited Metabolic Disease
Muscle-specific, liver-detargeted adeno-associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa<sup>−/−</sup> mice P. Sellier, Patrice Vidal, Berangere Bertin, Evelyne Gicquel, Isabelle Richard, David A. Gross, Federico Mingozzi, Fanny Collaud, Giuseppe Ronzitti 01/01/24 Journal of Inherited Metabolic Disease
Lethality rescue and long-term amelioration of a citrullinemia type I mouse model by neonatal gene-targeting combined to SaCRISPR-Cas9 Fanny Collaud, Giuseppe Ronzitti 12/14/23 Molecular Therapy - Methods and Clinical Development
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial Anna Buj-Bello 12/01/23 The Lancet Neurology
Smarcd3 is an epigenetic modulator of the metabolic landscape in pancreatic ductal adenocarcinoma Sonia Albini 12/01/23 Nature Communications
Current limitations of gene therapy for rare pediatric diseases: Lessons learned from clinical experience with AAV vectors Antoine Gardin, Giuseppe Ronzitti 11/01/23 Archives de Pediatrie
Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome Anne Galy 10/12/23 Blood
Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III Lucille Rossiaud, Emilie Pellier, Manon Benabides, Xavier Nissan, Lucile Hoch 10/01/23 Stem Cell Research
CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy Marine Geoffroy, Louna Pili, Valentina Buffa, Maëlle Caroff, Evelyne Gicquel, G. Rouby, Isabelle Richard, Romain Fragnoud 10/01/23 Cells
Modeling Sarcoglycanopathy in Danio rerio Isabelle Richard 08/01/23 International Journal of Molecular Sciences
Assessment of Therapeutic Potential of a Dual AAV Approach for Duchenne Muscular Dystrophy Sonia Albini, Laura Palmieri, Auriane Dubois, Nathalie Bourg, William Lostal, Isabelle Richard 07/01/23 International Journal of Molecular Sciences
Novel lentiviral vectors for gene therapy of sickle cell disease combining gene addition and gene silencing strategies Mario Amendola 06/13/23 Molecular Therapy - Nucleic Acids
Evaluation of diversity indices to estimate clonal dominance in gene therapy studies Guillaume Corre, Anne Galy 06/08/23 Molecular Therapy - Methods and Clinical Development
Evading and overcoming AAV neutralization in gene therapy Giuseppe Ronzitti 06/01/23 Trends in Biotechnology
Development of a dual hybrid AAV vector for endothelial-targeted expression of von Willebrand factor Elena Barbon, Solenne Marmier, Aboud Sakkal, Fanny Collaud, Severine Charles, Giuseppe Ronzitti, Federico Mingozzi 04/01/23 Gene Therapy
Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B Novella Tedesco, Pierre Romain le Brun, Philippe Veron 03/09/23 Molecular Therapy - Methods and Clinical Development
A Simple, Semi-Quantitative Acyl Biotin Exchange-Based Method to Detect Protein S-Palmitoylation Levels Valentina Buffa 03/01/23 Membranes

Number of publications of the laboratory by scientific field (2016-2021)

Every paper can be classified in one or more scientific fields. The figure below shows the lab's number of publications in each scientific field, according to the ASJC classification (Elsevier)