French Muscular Dystrophy Association (AFM), France

2015

  • A phase-I/IIa, escalating-dose, open-label study to evaluate efficacy, safety and tolerability of AAV-U7 locoregional injection in patients with Duchenne Muscular Dystrophy for exon 53 skipping
  • Pre-clinical development of an AAV-mediate gene therapy for FKRP deficiency (LGMD-2I)
  • Pre-clinical development of an AAV-mediated gene therapy for type-II SMA
  • Rapamycine vs Placebo for the Treatment of Inclusion Body Myositis (RAPAMI) (website)

2014

  • Pre-clinical and clinical development of ex vivo gene therapy for sickle-cell anemia by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector
  • Pre-clinical and clinical development of ex vivo gene therapy for sickle-cell anemia by autologous CD34+ hematopoietic stem/progenitor cells genome edited by a CRISPR/Cas9 approach
  • Pre-clinical and clinical development of ex vivo gene therapy for SCID-X1 (IL2RG deficiency) by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector
  • Repurposing of approved drugs active in sarcoglycanopathies

 

2013

  • A longitudinal study of personality and cognitive functions in DM1: implication for therapeutic trials and caring
  • A randomized, double blind, placebo-controlled phase II study of metformin in myotonic dystrophy type 1 patients MYOMET
  • Advances in oligonucleotide-mediated exonskipping for DMD and related disorders – WP3 – Natural history extension
  • An ADAMTS-like protein is required for clustering acetylcholine receptors at the C. elegans neuromuscular junction
  • Anti-atrophic role of Angiotensin 1-7 on skeletal muscle
  • Antisense oligonucleotide therapeutic strategy adapted to Erythropoietic Protoporphyria
  • Autophagy in glycogen storage disease type II and danon disease
  • Biomechanical study of neuromuscular junction and its impact on myopathies
  • Biomimetic cell niche for the study and expansion of  muscle progenitor cells
  • Characterization of pathological defects in motor neurons derived from patients with Amyotrophic Lateral Sclerosis
  • Characterization of splicing alterations in motor neurons derived from human iPS-SMA cells
  • Characterization of the dynamic of neuromuscular specification during the whole body regeneration in a basal chordate
  • Charcot-Marie-Tooth type IIa: a high throughput assay
  • Clinical development of ex vivo gene therapy for CGD by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector
  • ColQ and the post transcriptional regulation of AChR mRNA
  • Control of acetylcholine receptor expression by novel mechanisms identified at the C. elegans neuromuscular junction
  • Deciphering the molecular specificity of two neuromuscular diseases by using the yeast model system
  • Destabilizing FMR1 mRNA as a therapeutic strategy to treat FXTAS
  • Detection of insulin resistance and obesity in Duchenne/Becker muscular dystrophy
  • Development and characterization of animal models for Guillain-Barre Syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP)
  • Development of a new tool for gene therapy approach for autosomal dominant retinitis pigmentosa
  • Drosophila nesprin-1 a model of emery dreifuss muscular dystrophy. Contribution to muscle function
  • Electrophysiological biomarkers of spinal neural activity in amyotrophic lateral sclerosis
  • Epigenetic regulation of muscle stem cells: cooperation between Polycomb group/H3K27 methylation and H3K9 methylation pathways
  • Exercise prescription for Becker Muscular Dystrophy: identification of exercise limiting factors
  • Exploring cardiac pathogenesis associated to desmin mutations: a novel approach based on AAV-mediated expression
  • Function of RNA-binding proteins during Gastrointestinal smooth muscle plasticity
  • Functional Characterization of ANO5 mutated in Limb-girdle muscle dystrophy type 2L
  • Gadd45/p38 MAPK pathway during the development of cardiomyopathy
  • Gene therapy of retinal dystrophies using human models derived via patient iPS cells
  • Generation and analysis of a FKRP Reporter mouse
  • Genetic and functional characterisation of hereditary motor neuropathy (HMN)
  • Genetic correction of Xeroderma Pigmentosum skin cell
  • Genetics of familial amyotrophic lateral sclerosis
  • Ghrelin peptides as novel anti-atrophic factors acting directly in the skeletal muscle: identification of their molecular mechanisms and of their role in cancer cachexia
  • High-capacity adenovectors for homology-directed correction of dystrophin-defective myogenic cells
  • Identification and characterization of new titinopathies and related muscular dystrophies
  • Identification of E2/E3 couples involved in skeletal muscle atrophy
  • Identification of novel genes of mitochondrial translation deficiencies in human
  • Identification of the Muscle SpecificSplicing Code and implication for neuromuscular diseases
  • Identification of the post-transcriptional pathways involved in the NMDA-induced modulation of SMN2 gene expression in SMA mice
  • Impact of mitochondrial DNA (mtDNA) mutations on the maintenance of mtDNA during human embryofetal development
  • Incidence of oxidative stress on caveolae in relationship with muscle wasting: possible application to sarcopenia
  • Influence of mitochondrial homeostasis in the control of the regeneration and skeletal muscle mass
  • Inhibition of synthesis of terminal Complement Components as therapeutic strategy for peripheral neuropathies
  • Microenvironments for engineering muscle tissues in vitro: from 2D to 3D
  • Mitochondrial dNTP pool homeostasis and novel therapeutic strategies for mtDNA depletion syndromes
  • Modulation of mouse angiogenesis by targeted expression fo dystrophin-Dp71
  • Necrotizing myopathies: pathogenic role of autoantibodies and development of new immuno-assays.
  • Nemaline myopathy and related disorders: molecular genetics, pathogenesis and development of RNA-based therapy
  • Neoglyco-GAA for Pompe disease treatment
  • Neuroinflammation and regulation of chloride homeostasis of sensory-motor neurons
  • Neuromuscular junction function in Duchenne Muscular Dystrophy
  • Neuronal secretory mutants – characterization of neuromuscular junctions
  • Neurotoxic mechanisms in Drosophila models of ALS
  • New therapeutic approach of cardiac and skeletal muscle channelopathies
  • NF-YAs pharmacological therapy to potentiate the proliferative capacity of muscle satellite cells
  • Pathogenic mechanisms of Episodic Ataxia type 2: a new mouse model to investigate a novel therapeutic approach
  • Pathology of the calcium release complex
  • Pathophysiology of human mitochondrial disorders: searching for common treatable mechanisms
  • Post-genomic approaches to decipher the pathogenesis of Facioscapulohumeral dystrophy (FSHD)
  • Pre-clinical and clinical development of AAV-mediated microdystrophin delivery for gene therapy of DMD
  • Pre-clinical and clinical development of an AAV-based gene therapy for Crigler-Najjar Syndrome
  • Pre-clinical and clinical development of ex vivo gene therapy for Fanconi’s anemia by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector
  • Preclinical phase , and Natural History – Treatment of dysphagia in oculopharyngeal muscular dystrophy
  • Protein Damage and Repair in Muscular Dystrophies
  • Regulation of mitochondrial energy metabolism by the endocannabinoid system
  • Repair of DNA breaks in mouse skeletal muscle stem cells: implications in muscle regereration in the adult
  • Rhabdomyolysis: pathogenic mechanisms of LPIN1-related disease and newly identified genes for therapeutic perspectives
  • Role of Annexin A2 in muscle inflammation in Dysferlinopathy
  • Role of chaperone-mediated autophagy in skeletal muscle homeostasis and during muscle loss
  • Role of Lipin 1 in skeletal muscle development and maintenance
  • Role of mTOR at the neuromuscular junction and in skeletal muscle integrity: implications for human diseases
  • Role of sarco(endo)plasmic reticulum calcium pumps in correcting calcium mishandling of dystrophic muscle cells
  • Role of sarco(endo)plasmic reticulum calcium pumps in the control of calcium signalling in muscle cells
  • Role of the transcription coregulator RIP140 in myelination: relevance in CMT1A pathology
  • Role of Tmem2, a novel transmembrane protein in ventricular maturation and muscle morphogenesis
  • Role of Wnt signalling during Muscle Regeneration
  • Satellite cell regulation by IL-6 in muscle regeneration
  • Selective autophagic response to proteotoxicity in motorneurons and muscle of motor neuron diseases
  • Single fiber trnascriptomics to reveal the contribution of skeletal muscle to the SMA pathogenesis
  • Six homeoproteins networks in adult muscle cells in different physiopathological conditins
  • Skeletal muscle stem cell cardiogenic and neurogenic differentiation: an in vitro and in vivo analysis
  • Social cognition and executive functions in childhood DM1
  • Specific Targeting of Gemin8/PP1gamma interaction for Opening up on a new Potential therapeutic approach for SMA
  • Speech optimization during long-term non-invasive mechanical ventilation
  • Spinal Posterior DYNAMic OSTeosynthesis device allowing growth
  • Strectch-induced membrane damages and repair in cardiomyocytes from mdx mice with dilated cardiomyopathy
  • Study of the link between triadin and microtubules
  • The molecular network underlying fate segregation of dermomyotome progenitors
  • The role fo fizzy related in myoblast fusion
  • The role of necrosome in DMD myofibre death
  • The sodium channel Nav 1,4 at the neuromuscular junction: role in congenital myasthenic syndromes
  • The transcriptional code of adult motoneurone identity in Drosophila
  • Therapeutic potential of HDAC6 inhibition in mouse models of Charcot-Marie-Tooth disease (CMT)
  • Tissue-specific expression of human GlyRS in CMT disease
  • Translational studies to evaluate the efficacy of Rimeporide, a NHE-1 inhibitor, in patients with Duchenne Muscular Dystrophy
  • Translocator Protein (TSPO) ligand in improvement of peripheral nerve regeneration, immunomodulation and pain
  • Unexpected functions of neurofilaments in normal and pathological situations of motoneurons
  • Unusual contractions in myotonic dystrophy type 1 families: identification of the CTG repeat contraction mechanisms
  • Validation of novel heart and skeletal muscle- specific regularoty elements for gene therapy
  • Whole exome sequencing to dissect genetic complexity in Fasciocapulohumeral dystrophy

2012

  • Pre-clinical evaluation of kifunensine for the therapy of LGMD-2D

2011

  • Phase II, multicenter, randomized, adaptive, double-blind, placebo controlled study to assess safety and efficacy of Olesoxime (TRO19622) in 3-25 year old spinal muscular atrophy (SMA) patients
  • Pre-clinical and clinical development of ex vivo gene therapy for RS-SCID (artemis deficiency) by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector

2010

  • Accelerated development of three clinical candidates into Phase I/II studies for the treatment of selected patient populations in Duchenne
  • Clinical development of ex vivo gene therapy for beta-thalassemia
  • Clinical development of ex vivo gene therapy for WAS by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector
  • Clinical Open-label study of the long term safety of riluzole therapy in spinal muscular atrophies types II and III, with patients previously enrolled in ASIRI double-blind study
  • Endonuclease-based therapy for Dystrophic Epidermolys bullosa
  • Estrogen receptors in dystrophic muscle: expression, function and contribution to tamoxifen effects
  • Ex vivo gene therapy approaches for recessive and dominant dystrophic epidermolysis bullosa ( DEB Therapy)
  • Non-clinical development of omigapil (SNT 201’317) for the potential treatment of congenital muscular dystrophy
  • PASTE-ES Safety, tolerability and efficacy of a human embryonic stem cells derived epidermis substitute for the treatment of inveterate sickle cell leg ulcers: a first in man Phase I/II multicenter trial
  • Phase 2a study of Ataluren (PTC124) in Nonambulatory boys with Nonsensemutation-mediated DMD/BMD (website)
  • Pre-clinical and clinical development of AAV-mediated gene therapy for myotubular
  • Pre-clinical and clinical development of gene therapy for Huntington’s Disease by intracerebral administration of a CCL-PGK-CNTF lentiviral vector
  • Pre-clinical development of an AAV-mediate gene therapy for alpha-sarcoglycan deficiency (LGMD-2D)
  • Preclinical studies for specific gene addition therapy in PDE6ß-deficient dogs
  • Study of the effect of preventive treatment with Nebivolol on the development and progression of cardiac dysfunction in children with Duchenne
  • Transplantation of human embryonic stem cell-derived cardiac progenitors for the treatment of end-stage heart