19th International SPDM Symposium
29th – 31st March 2023
Hybrid Symposium
“The next steps in Inborn Errors of Metabolism:
from newborn screening to palliative care"
Scientific Programme
| Wednesday, 29th March | |
| 17:00 17:45 |
SPDM Nutrition Group Meeting |
| 17:45 19:00 |
SPDM Groups Meeting |
| 19:00 |
Welcome drink |
| Thursday, 30th March | |
| 08:30 |
Registration Opening |
| 09:00 |
Symposium Opening - Welcome Address on behalf of the SPDM |
| 09:10 10:50 |
Session I Inherited metabolic diseases in the lifetime Chairpersons: Lelita Santos, Coimbra; João Durães, Coimbra; Maria João Guedes, Coimbra |
| 09:10 09:30 |
Dietary management during the lifetime for IMD Júlio Cesar Rocha, Lisbon, Portugal |
| 09:30 09:50 |
Reproductive health and other challenges in adults with an IMD Elaine Murphy, London, United Kingdom |
| 09:50 10:10 |
Neurometabolic disorders in adults: IMD and beyond Fanny Mochel, Paris, France |
| 10:10 10:30 |
Palliative care for IMD patients Cândida Cancelinha, Coimbra, Portugal |
| 10:30 10:50 |
Discussion |
| 10:50 11:20 |
Coffee Break and Poster view |
| 11:20 12:40 |
Session II Familial dyslipidaemias Chairpersons: Ana Gaspar, Lisboa; Teresa Cardoso, Porto; Anália Carmo, Coimbra |
| 11:20 11:40 |
Defects of lipoprotein metabolism: from the genes to the clinic Adriaan Holleboom, Amsterdam, Netherlands |
| 11:40 12:00 |
Familial hypercholesterolaemia in children and adolescents - better safe than sorry Albert Wiegman, Amsterdam, Netherlands |
| 12:00 12:20 |
The Portuguese screening programs for familial dyslipidaemias Mafalda Bourbon, Lisbon, Portugal |
| 12:20 12:40 |
Discussion |
| 12:40 14:30 |
Lunch and Satellite Symposium |
| 14:30 16:00 |
Session III Are we moving forward in lysosomal storage disorders? Chairpersons: Esmeralda Rodrigues, Porto; Sandra Alves, Porto; Lucia Lacerda, Porto |
| 14:30 14:50 |
The future of enzyme replacement therapy Eugen Mengel, Hochheim, Germany |
| 14:50 15:10 |
The path to gene therapy in lysosomal storage disorders Francesca Tucci, Milan, Italy |
| 15:10 15:30 |
Registries in inherited metabolic diseases: how to move forward? Nadia Belmatoug, Paris, France |
| 15:30 16:00 |
Discussion |
| 16:00 16:30 |
Coffee Break and Poster view |
| 16:30 17:30 |
Session IV Oral Communications I Chairpersons: Sara Ferreira, Coimbra; Isabel Rivera, Lisbon |
| 17:30 | SPDM Generaly Assembly |
| 19:00 |
Departure to the Symposium Dinner |
| Friday, 31st March | |
| 09:00 10:30 |
Session V New approaches in porphyrias Chairpersons: Arlindo Guimas, Porto; Sónia Moreira, Coimbra; Eulália Costa, Coimbra |
| 09:00 09:20 |
Acute hepatic porphyria - The experience of a reference center in Brazil |
| 09:20 09:40 |
Biochemical and molecular update on porphyria diagnosis |
|
09:40 |
The RNAi therapeutics revolution: from bench to bedside and back again |
| 10:00 10:30 |
Discussion |
| 10:30 11:00 |
Coffe Break and Poster View |
| 11:00 12:20 |
Session VI Thinking big and bold in inherited metabolic diseases Chairpersons: Laura Vilarinho, Porto; Ana Cristina Ferreira, Lisbon; Anabela Oliveira, Lisbon |
| 11:00 11:20 |
Challenges and Opportunities for using of real world data in metabolic medicine Mário Silva, Lisbon, Portugal |
| 11:20 11:40 |
Newborn screening by WGS: opportunities and challenges David Bick, United Kingdom |
| 11:40 12:00 |
Aging in IMD: uncovering new phenotypes Charles Lourenço, Ribeirão Preto, Brazil |
| 12:00 12:20 |
Discussion |
| 12:20 13:00 |
Session VII |
| 13:00 14:30 |
Lunch |
| 14:30 15:00 |
Session VIII |
| 14:30 14:50 |
Unmet needs for the patient and the family José Vilhena, Coimbra, Portugal |
| 14:50 15:10 |
The pharmacist and the specificities of IMD Sara Dias, Lisbon, Portugal |
| 15:10 15:30 |
Reference Centres of IMD in Portugal - challenges and opportunities Luísa Diogo, Coimbra, Portugal |
| 15:30 15:50 |
Discussion |
| 15:50 16:30 |
Session IX |
| 15:50 16:10 |
Diet quality and saproterin dihydrochloride (BH4) use in children with phenylketonuria (PKU) |
| 16:10 16:30 |
Novel insights into treatment strategies for hyperammonemia-associated urea cycle disorders and organic acidurias |
| 16:30 17:00 |
Coffee Break and Poster View |
|
17:00 |
Session X Spotlight II Chairpersons: Paulo Castro Chaves, Porto; Paula Leandro, Lisbon |
| 17:00 17:20 |
Something stinks’: impaired hydrogen sulfide and cysteine persulfide production by cystathionine β-synthase variants identified in classical homocystinuria patients João Vicente, Lisbon, Portugal |
| 17:20 17:40 |
Improve management of MADD patients: a curated database with clinical, molecular and cellular information |
| 17:40 | Awards and Final Remarks |
| 18:00 |
End of the Symposium |
