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
Charles Marques Lourenço, Ribeirão Preto, Brazil

09:20
09:40

Biochemical and molecular update on porphyria diagnosis
Filipa Ferreira, Porto, Portugal

 09:40
10:00

The RNAi therapeutics revolution: from bench to bedside and back again
Pedro Moreno, Porto, Portugal

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
Oral Communications II
Chairpersons: Joana Salgado, Coimbra; João Gomes, Coimbra

13:00
14:30
Lunch
14:30
15:00

Session VIII
Unmet needs in inherited metabolic diseases
Chairperons: Paulo Gonçalves, Lisbon; Fátima Ventura, LisbonRui Tato Marinho, Lisbon

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
Spotlight I
Chairpersons: Maria Helena Santos, V. Nova Gaia; Nanci Batista, Coimbra

15:50
16:10

Diet quality and saproterin dihydrochloride (BH4) use in children with phenylketonuria (PKU)
Maria Inês Gama, Lisbon, Portugal

16:10
16:30

Novel insights into treatment strategies for hyperammonemia-associated urea cycle disorders and organic acidurias
Margarida Silva, Lisboa, Portugal

16:30
17:00

Coffee Break and Poster View

17:00
17:40

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
Bárbara Henriques, Lisbon, Portugal

17:40 Awards and Final Remarks
18:00
End of the Symposium

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