Therapeutic approaches on CMT neuropathies
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 (abstract in pdf, 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 (abstract in pdf, 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 (abstract in pdf, 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 (abstract in pdf, 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 (abstract in pdf, 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 (abstract in pdf, 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 (abstract in pdf, 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