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Chairs: 

Angelo Schenone with Maria Fernanda Lemos Ojea

Keynote Talk:

• 14:30 PL3-K: Kleopas Kleopa (The Cyprus Institute of Neurology and Genetics, Cyprus)
  Current status of therapeutics development for CMT neuropathies

Selected presentations:

(Part I - 15:00 - 16:00)

• 15 :00 PL3-01: Nathalie Bernard-Marissal (Aix-Marseille University, France)
  Rescue of CMT2A pathology by two therapeutic approaches aimed at restoring defective organelle contacts and associated pathways (, 227 kb)

• 15:13 PL3-02: Nikolay Zhukovsky (Ageronix, Switserland)
  Alpha-1 Antitrypsin demonstrates therapeutic efficacy in a mouse model of Charcot-Marie-Tooth Disease Type 1A (, 213 kb)

• 15:26 PL3-03: Lara Cantarero (Institut de Recerca Sant Joan de Déu, Spain)
  A new selective HDAC6 inhibitor ameliorates disease phenotype in a Gdap1⁻/⁻ mouse model (, 221 kb)

• 15:39 PL3-04: Alberto Raoss (University of Trento, Italy)
  Restoration of the physiological levels of PMP22 in CMT1A patient cells via base editing of the Kozak sequence , 222 kb)
  

(Part II - 16:30 - 17:10)

• 16:30 PL3-05: Hyeongseop Kim (ENCell Corp, Republic of Korea)
  Therapeutic Potential and Safety of allogeneic mesenchymal stromal cell (EN001) in CMT1A and CMT1E: First-in-Human Evidence from South Korea (, 232 kb)

• 16:43 PL3-06: Natalia Dominik (Queen Square UCL, UK) 
  Loss of ARHGAP19 function disrupts RhoA regulation in Charcot-Marie-Tooth disease: mechanisms and therapeutic targets (, 262 kb)
  

• 16:56 PL3-07: Antonella Vitale (Università Cattolica del Sacro Cuore – Roma, Italy)
  Ultrasound Evaluation of the Plantar Fascia in CMT Patients: Clinical-Functional Correlations and Rehabilitative Implications (, 218 kb)

Objectives:

• New therapeutic approaches and drug development for inherited neuromuscular diseases, and the specific roles of the patients (as partners) and of industrial partners in the R&D process
• Value patients’ and physiotherapists’ possible contribution to the R&D processes in iNMDs.

 
Tasks and deliverables:

• Review and evaluate current preclinical tools and strategies for the development of new therapeutic approaches – assess the possible value of a partnership with the pharmaceutical industry 
• Analyse physiotherapy and the role of patients in terms of active participation and outcome assessment, including avenues towards streamlined collection of data, anonymized in conformity with GDPR 
• Assess perspectives and risks of genetic engineering methods – possible combination with current and new alternative therapeutic approaches – assess potentials raised by inclusion of patients as partners