Thursday 6th October
General concepts
New options of treatment in "classic therapeutic approaches" for neurometabolic diseases.
Innovative treatments
14:00
What is a neurometabolic disease in 2022? Definition and classifications of neurometabolic diseases.
Angeles García-Cazorla, Barcelona, Spain
14:30
Treatable neurometabolic diseases: from classic to novel treatable disorders. An update of therapeutic options in every category of diseases.
Mireia del Toro, Barcelona, Spain
15:00
New dietetic approaches
Verónica Cornejo, Santiago, Chile
15:30
New pharmacological options
Carolina Fischinger, Porto Alegre, Brazil
16:00
Latest results of clinical outcomes post-liver transplantation - who is doing that in LATAM?
Ivone Malla, Buenos Aires, Argentina
16:30
Break
17:00
Future of Genomics in LATAM
Leonardo Vedolin, Porto Alegre, Brazil
17:30
New technologies to improve neurological symptoms: robotics, artificial intelligence, neurostimulation.
Alejandra Darling, Barcelona, Spain
18:00
Crossing the BBB
Simon Jones, Manchester, UK
Friday 7th October
What is new in neurometabolic diseases with difficult therapeutic approaches
Deep phenotype characterization to monitor therapeutic responses
Workshops
09:00
New treatments in mitochondrial disorders
Charles Lourenço, São José do Rio Preto, Brazil
09:30
Therapeutic options in neurodegenerative disorders beyond lysosomal defects (i.e. peroxisomal, cell trafficking disorders, autophagy defects…)
Alejandra Darling, Barcelona, Spain
10:00
Amino acid synthesis defects. What is the global clinical outcome of amino acid-based replacement therapies?
Angeles García-Cazorla, Barcelona, Spain
10:30
Break
11:00
Lessons learned from Long-term registries
Thomas Opladen, Heidelberg, Germany
11:30
Advanced brain image techniques to monitor the effect of treatments
To be confirmed
12:00
Challenges in the evaluation of neurological functions: standardized clinical scores, usefulness and limitations.
Hernan Amartino, Buenos Aires, Argentina
12:30-14:00
Lunch
14:00 - 18:00
WORKSHOPS
A) Vitamin based therapies
Norma Specola, La Plata, Argentina
B) Treatment of Movement Disorders in neurometabolic diseases
Thomas Opladen, Heidelberg, Germany
C) Treatment of Behavior and Psychiatric symptoms in neurometabolic diseases
Maurizio Scarpa, Udine, Italy
Saturday 8th October
Future directions in Neurometabolic diseases
09:00
Access to treatments and clinical trials in Latin America. Not so close, not so far.
Roberto Giugliani, Porto Alegre, Brazil
09:30
Enzymatic therapies
Mireia del Toro, Barcelona, Spain
10:00
Break
10:30
Cell therapies and iPSCs
Maurizio Scarpa, Udine, Italy
11:00
Gene therapy and Future directions
Simon Jones, Manchester, UK
11:30
General discussion
12:00
Patient/family session
Participation of a patient, family, patient association