21st International SPDM Symposium
26th – 29th March 2025

“Raising awareness on Inherited Metabolic Disorders”
Preliminary Scientific Programme

Programme Download

  

Wednesday, 26th March

17:00
SPDM Working Groups Meeting
18:00
SPDM Nutrition Group Meeting

  

Thursday, 27th March

09:00
Symposium Opening - Welcome Address on behalf of the SPDM
Symposium Chairperson - Daniel Costa Gomes
09:15

Session I – Innovation in diagnostic methods for classic inherited Metabolic Disorders (IMD)
Chairperson:
Célia Nogueira, Porto, PT |Margarida F. B. Silva, Lisbon, PT

09:15
Metabolomics to screen for classic IMD
George Ruijter, Rotterdam, NL
09:40
Advances on integrative omics approaches to IMD diagnosis
Holger Prokisch, Munich, DE
10:05
Quantitative Proteomics in Mitochondrial Disease - where are we now?
Marco Moedas, Stockholm, SE
10:30
Lipidomics in IMD for biomarker discovery
Frédéric Vaz, Amsterdam, NL
10:55
Coffee Break
11:30
Session II – Rethinking Newborn Screening (NBS)
Chairperson:
 Esmeralda Martins, Porto, PT | Laura Vilarinho, Porto, PT
11:30
New Challenges in NBS
Hugo Rocha, Porto, PT
11:55
Challenges of using whole genome sequencing in population NBS
Robin Lachmann, London, UK
12:20
Lessons from adult metabolic medicine
Fanny Mochel, Paris, FR
12:45
Lunch Symposium
Cipaglucosidase alfa + miglustat: Now you can do more (+) for your Pompe patients (AMICUS)
Arlindo Guimas, Porto, PT
14:15
Session III – Raising awareness on neurometabolic diseases
Chairperson:
Patrícia Janeiro, Lisbon, PT | João Durães, Coimbra, PT
14:15
Metabolic epilepsies - clinical and biochemical footprints of IMD
Angeles Garcia Cazorla, Barcelona, ES
14:40
Update on leukodystrophies and developing trials
Karen Gunanayagam, London, UK
15:05
Movement disorder increases with age in argininosuccinic aciduria
Julien Baruteau, London, UK
15:30
Coffee Break
16:00
Session IV – Oral Communications
Chairperson: 
Teresa Campos, Porto, PT | Isaura Ribeiro, Porto, PT
17:00
Session V – E-posters guided walk 
19:30
Departure to Dinner

  

Friday, 28th March

09:00
Session VI – Development and challenges for new therapies in IMD
Chairperson: 
Arlindo Guimas, Porto, PT | Margarida Coelho, Lisbon, PT
09:00
The basis for mRNA-based therapies in IMD
Fátima Ventura, Lisbon, PT
09:25
mRNA therapy for lysosomal disorders
Sandra Alves, Porto, PT
09:50
Mitochondrial disorders - hope for the future?
Shamima Rahman, London, UK
10:15
New treatment approaches for CDG
Dulce Quelhas, Porto, PT
10:40
Coffee Break
11:15
Session VII – Revisiting nutritional approaches in IMD
Chairperson: 
Júlio César Rocha, Lisbon, PT | Vânia Magalhães, Porto, PT
11:15
Exploring asymptomatic childhood methionine cycle disorders
Patrícia Lipari Pinto, Lisbon, PT
11:40
Supplementation for performance and health in patients with phenylketonuria
Domingo Gonzalez-Lamuño, Santander, ES
12:05
Personalised parenteral nutrition for acute IMD decompensations
Marjorie Dixon, London, UK
12:30
Lunch Symposium
Unmet Needs of ARG1-D Patients: New Perspectives (IMMEDICA)
Elisa Leão Teles, Porto, PT
14:00
Session VIII – Selected E-posters Communications
Chairperson: 
Ana Cristina Ferreira, Lisbon, PT | Hugo Rocha, Porto, PT
15:00
Session IX – Moving from research and clinical practice to digital health and decision
making in IMD
Chairperson: 
Bárbara J. Henriques, Lisbon, PT | Daniel Costa Gomes, Lisbon, PT
15:00
The European Health Data Space: impact for disease management at the individual and population level
Cátia Sousa Pinto, Lisbon, PT
15:25
Using data science for better healthcare and opportunities in IMD
Joao Guimarães, Lisbon, PT
15:50
Sustainability in the development of the treatments for IMD
Rui Santos Ivo, Lisbon, PT
16:15
Coffee Break
16:45
Session X – SPDM grants communications
Chairperson: 
Dulce Quelhas, Porto, PT | Isabel Tavares de Almeida, Lisbon, PT
16:45
Can enzyme replacement therapy revert iNKT cell dysfunction in acid sphingomyelinase
deficiency patients?
Fátima Macedo, Porto, PT
17:05
Functional and structural impact of 10 ACADM missense mutations on human medium
chain acyl-CoA dehydrogenase

Ana Paula Leandro, Lisbon, PT
17:30
Awards / Closing Remarks
  End of the Symposium 
 18:00 SPDM General Assembly

 

Saturday, 29th March - Raising awareness in innovative therapies in IMD

Programme