Scientific Programme

14 February 2025

 

08:00–08:30

WELCOME AND REGISTRATION

 

08:30–09:00

GREETINGS AND CONFERENCE PRESENTATION

 

V. Rovelli, Scientific Coordinator of PKU-Con, Department of the Mother and the Child, San Paolo Hospital, Milan
G. Banderali, Chief of the Department for the Mother and the Child San Paolo Hospital
A. Burlina, Coordinator of the Working Group on PKU for the Italian Society of Metabolic
C. Dionisi Vici, Italy HCP Representative for European Reference Network for Hereditary Metabolic Disorders – Metab-ERN
G. La Marca, Council Member of the Society for the Study of Inborn Errors of Metabolism – SSIEM
A. Pession, President of the Italian Society of Metabolic Diseases – SIMMESN
J.C. Rocha, Council Member of the Society for the Study of Inborn Errors of Metabolism – SSIEM
F. van Spronsen, Chairman of the Scientific Advisory Committee ESPKU

09:00–10:00

MODIFYING PARADIGMS IN PKU
Discussants: G. Banderali, C. Cereda, A. Muntau

  • Screening, diagnosis and monitoring of PKU: what have we learned?
    M. Pasquali
  • Can we predict phenotype? Tips in genotyping and variant interpretation
    N. Blau
  • Biomarkers in Phenylketonuria: what can we do more?
    F. van Spronsen
  • Phenylalanine target levels: what is normal?
    A. Burlina
  • Does hyperphenylalaninemia induce brain glucose hypometabolism?
    A. Pilotto

10:00–10:30

Discussion

 

10:30–12:00

LONG TERM OUTCOMES
Discussants: A. Hermida, N. Longo, S. Paci

  • Neurocognitive outcomes: PKU and the brain
    V. Leuzzi
  • Multiple mechanisms of Phe neurotoxicity – could blood Phe levels close to physiological be the solution?
    M. Gizewska
  • Antioxydant status and cardiovascular risk
    P. Reismann
  • Bone disease and kidney function in PKU
    J. Kraemer
  • Risk of overweight/obesity
    J.C. Rocha

12:00–12:30

Discussion

 

12:30–13:30   

LUNCH

 

13:30–14:30

ADVANCES IN DIETARY TREATMENT (I)
Discussants: J.C. Rocha, M. Spada, J. Zuvadelli

  • Protein substitutes: the state of play
    A. MacDonald
  • Low protein foods: past, present and future
    A. Dianin
  • Natural proteins: fruit and vegetables impact on blood Phe levels
    A. Pinto
  • Choline intake and working memory
    R. Singh

14:30–15:00

Discussion

 

15:00–16:30

ADVANCES IN DIETARY TREATMENT (II)
Discussants: A. Bordugo, A. Dianin, F. Feillet

  • Phe imbalances during sport activities and catabolic state
    A. Bélanger-Quintana
  • Pregnancy in PKU: emergency regimen and maintanance
    I. Scala
  • Actual and future application of use for LNAA in PKU
    K. Ahring
  • Glycomacropeptide: a potential nutritional strategy for the treatment of obesity and metabolic syndrome
    D. Ney
  • GOS and FOS in PKU
    J.C. Rocha

16:30–17:00

Discussion

 

Closing CME day

 

17:00–19:00

Industry Sponsored Sessions

 

19:00–19:30

Get Connected! – Networking and Stands Visiting

15 February 2025

 

08:30–10:00

BURDEN OF ILLNESS and UNMET NEEDS OF PKU
Discussants: V. Leuzzi, A. MacDonald, D. Noto

  • Balance between burden of disease and burden of treatment
    F. van Spronsen
  • Ageing with Phe
    A. Hermida
  • Undiagnosed and late treated PKU
    S. Sivri
  • Psychiatric conditions as playmakers in defining the PKU journey
    N. Gregoric
  • Transnational cooperation to facilitate management
    A. Tummolo

10:00–10:30
Discussion

 

10:30–11:30
PHARMACOLOGICAL OPTIONS: ORAL TREATMENTS
Discussants: N. Blau, A. Burlina, G. Cefalo

  • Why think pharma?
    C. Cazzorla
  • Sapropterin
    G. Biasucci
  • Sepiapterin for the treatment of phenylketonuria
    N. Longo
  • A phenylalanine-free recombinant nutritional protein for the dietary management of phenylketonuria
    B. Thony

11:30–12:00
Discussion

 

12:00–13:30
LUNCH

 

13:30–14:30
PHARMACOLOGICAL OPTIONS: ENZYME SUBSTITUTION THERAPY
Discussants: C. Dionisi Vici, C. Harding, I. Scala

  • Immunological perspectives on pegylation
    A. Matucci
  • Customization of pegvaliase treatment
    A. Muntau
  • Nutritional approach and outcomes on enzyme substitution therapy
    S. Sacharow
  • Pegvaliase use in the childbearing years and pregnancy
    M. McNutt

14:30–15:00
Discussion

 

15:00–16:30
FUTURE PERSPECTIVES
Discussants: A. Pession, F. van Spronsen

  • Transitional care in PKU
    A. Tummolo
  • Long non-coding RNA (HULC) and PKU
    F. Feillet
  • Therapeutic liver cell transplantation to treat PKU
    B. Thony
  • Gene therapy and gene editing for PAH deficiency
    C. Harding

16:30–17:00
Discussion

 

17:00–17:30
Closing Remarks
V. Rovelli