SCIENTIFIC programme
Sunday 23 August
| 15:00 - 21:30 | INFORM Meeting Part I Hilton Helsinki Kalastajatorppa, NOT Messukeskus (registration at INFORM – limited places) |
Monday 24 August
| 08:00 - 17:30 | INFORM
Meeting Part II Hilton Helsinki Kalastajatorppa, NOT Messukeskus (registration at INFORM – limited places) |
| 08:00 - 18:00 | UCD
Guideline group meeting Meeting room 210 (by invitation only) |
| 10:00 - 12:00 | eHOD Meeting room 212 (by invitation only) |
| 12:00 - 14:00 | Recon4IMD Meeting room 102 (by invitation only) |
| 13:00 - 15:00 | eHOD Meeting room 101D (by invitation only) |
| 13:00 - 16:00 | SSIEM Dietitians’ Group Academy Review: addressing dietetic challenges Meeting room 101AB (open to all) Introduction: Building on the key insights from virtual DG Academy courses, this session will feature our expert course speakers to address the latest clinical challenges and dietary management for Glutaric Aciduria Type 1 and Hepatic Glycogen Storage Disorders. Chair: Anne Daly (United Kingdom) 13:00-13:10 Welcome and introduction - Alice Dianin (Italy) 13:10-13:30 Joanna Gribben (United Kingdom) 13:30-13:50 Alessandro Rossi (Italy) 13:50-14:15 Panel discussion and Q&A Panelists: Anne Daly (United Kingdom), Minna Similä (Finland), Jessica Kopesky (United States) 14:15-14:45 30 minutes break 14:45-15:05 Sarah Cawtherley (United Kingdom) 15:05-15:25 Corrie Timmer (Netherlands) 15:25-15:50 Panel discussion and Q&A Panelists: Anne Daly (United Kingdom), Minna Similä (Finland), Jessica Kopesky (United States) 15:50-16:00 Wrap up and end of the meeting |
| 14:00 - 16:00 | MetabERN plenary meeting Meeting room 101C (by invitation only) |
| 16:00 - 18:00 | SSIEM Council meeting Meeting room 215 (by invitation only) |
| 16:00 - 18:00 | MetabERN
meetings (by invitation only)
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| 16:30 - 20:30 | ERNDIM Board meeting Meeting room 209 (by invitation only) |
Tuesday 25 August
| 8:00 - 12:00 | UCD Guideline group meeting Meeting room 210 (by invitation only) |
| 08:15 - 09:15 | Introduction for those who are new to the field: multidisciplinary collaboration for diagnosing and treating inborn errors of metabolism Hall 5B (open to all) CHAIR: Pasi Nevalainen (Tampere, Finland) 08:15 - 08:30 Introduction to the SSIEM organization and the SSIEM 2026 meeting Pasi Nevalainen (Finland) 08:30 - 08:45 Pediatrician’s view Mervi Hyvönen (Finland) 08:45 - 08:55 Clinical laboratory view Irina Nagy (Finland) 08:55 - 09:05 Dietician’s view Jetta Tuokkola (Finland) 09:05 - 09:15 Adult metabolist’s view Pasi Nevalainen (Finland) |
| 08:30 - 10:35 | SSIEM
Dietitians’ Group (DG): Nutrition and Dietetics session Hall 1(open to all) CHAIRS: Camilla Caroee (Denmark); Alexander Hoeller (Austria) 08:30-08:55 Dietary management of Urea Cycle Disorders across the lifespan: Consensus and Controversies in practice Krista Viau (United States) 08:55 – 09:20 Lysinuric Protein Intolerance: metabolic challenges and dietary management Harri Niinikoski and Katrin Strengell (Finland) 09:20 – 09:45 Dietary management of Pyruvate Dehydrogenase Deficiency Rachel Skeath (United Kingdom) 09:45 – 10:10 Point-of-Care testing for blood phenylalanine: Impact on clinical decision-making in PKU Alex Pinto (United Kingdom) 10:10 – 10:35 Protein substitutes used in the treatment of Phenylketonuria distinctly modulate gut nutrient absorption and bacterial growth: an in vitro study Catarina Rodrigues (Portugal) |
| 08:30 - 10:35 | SSIEM Adult Metabolic Physicians’ Group (AMPG): Tailoring and discontinuation of therapy in adulthood Hall 5 A (open to all) CHAIRS: Sandra Sirrs (Canada) and Risto Lapatto (Finland) 08:30-08:35 Opening of the session Mirjam Langeveld (Netherlands) 08:35-10:00 Discontinuation of ERT for lysosomal storage disorders Introduction Talks 1. Ethical considerations regarding discontinuation of enzyme replacement therapy Hans-Jürgen Christen (Germany) 2. Progression of cardiac manifestations of Fabry disease despite enzyme replacement therapy Bram Veldman (Netherlands) 3. What happens if we discontinue enzyme replacement therapy in Fabry disease? Maud Jansen (Netherlands) 4. Discontinuation of ERT in Pompe disease Lianne Potters (Netherlands) 10:00-10:35 Debate: “ERT should be discontinued in patients with Fabry disease and advanced fibrosis” For / against: Mirjam Langeveld (Netherlands)/ Rick Steeds (United Kingdom) Closing of the session: Sandra Sirrs (Canada) 10:35-11:00 coffee break (switch to room with the Dieticians Group) |
| 9:00 - 10:30 | ERNDIM Workshops Meeting rooms 101C, 101D, 102, 208 and 209 (by invitation only) |
| 9:00 - 13:00 | JIMD Editorial Board Meeting Meeting room 214 (by invitation only) |
| 11:00 - 12:00 | SSIEM Dietitians’ Group (DG) and Adult Metabolic Physicians’ Group (AMPG) joint meeting: Relaxation of PKU treatment in adulthood Hall 1 Collaborative roundtable with the Adult Metabolic Physicians and Dieticians Group LEAD: Elaine Murphy (London, United Kingdom) and Alice Dianin(Verona, Italy) PANELISTS: Peter Burgard (Germany), Anita MacDonald (United Kingdom), Robin Lachmann (United Kingdom), Francjan van Spronsen (Netherlands), Kirsten Ahring (Denmark) |
| 11:00 - 12:45 | ERNDIM Open meeting Meeting room 101C |
| 12:45 - 13:45 | SSIEM Adult Metabolic Physicians’ Group business meeting Meeting room 101D (SSIEM AMPG members only) |
| 12:45 - 13:45 | Satellite meetings by the sponsors Halls 5A, 5B, 5C and 101AB |
| 14:00 - 14:10 | Opening of the Symposium Hall 1 |
| 14:10 - 14:40 | Opening Plenary Lecture Hall 1 CHAIRS: Manuel Schiff (France) and Risto Lapatto (Finland) From the zygote to a person: genes, epigenetics, environment, and chance Juha Kere (Sweden) |
| 14:40 - 15:40 | Plenary 1 - The Foeto-Maternal Unit and Inborn Errors of Metabolism (IEM) Hall 1 CHAIRS: Helen Michelakakis (Greece) and Alice Dianin (Italy)
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| 16:00 - 17:45 | SSIEM, MetabERN and ISNS session on Newborn Screening on Lysosomal Diseases Hall 101C (open to all) CHAIR: Rolf Zetterström (Sweden) TALKS BY: Stefan Kölker (Germany), Giancarlo la Marca(Italy), Mirjam Langeveld (Netherlands), Maria Jose De Castro Lopez (United Kingdom) Discussion |
| 16:15 - 17:45 | Parallel sessions A A1: Dietetics and nutrition Hall 1 CHAIRS: Julio Rocha (Portugal) and Jetta Tuokkola (Finland) O-001 Safety of overnight dietary treatment in LCHAD deficiency patients Katrin Strengell, Finland O-002 Variability in dietary management in Isovaleric Acidaemia (IVA): A retrospective longitudinal cohort study Sarah Cawtherley, United Kingdom O-003 Single-centre experience of parenteral nutrition in acutely managing methylmalonic acidaemia and propionic acidaemia Georgina Wood, United Kingdom O-004 Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study Engin Kose, Turkey O-005 Breastfeeding in inborn errors of metabolism: a retrospective study in cases detected by neonatal screening Sinziana Stanescu, Spain O-006 Twenty‑Four Years of Liver Transplantation for Inherited Metabolic Disorders: Have We Improved Nutritional Outcomes? Anne Daly, United Kingdom O-007 Increased Adiposity Despite Protein and Energy Restriction in Adults with Inborn Errors of Protein Metabolism Giorgia Gugelmo, Italy O-008 Large Language Models’ Responses to Patient-Like Questions in Metabolic Dietetics: A Comparative Evaluation Martina Tosi, Italy O-009 Developing a paediatric dietetic complexity tool to inform workforce requirements using a best practice model Fiona White, United Kingdom A2: Protein modification disorders including CDG Hall 5C CHAIRS: Dulce Quelhas (Portugal) and Kimitoshi Nakamura (Japan) O-010 Scaling phenotypes from clinical notes to identify hidden inborn errors of metabolism using machine learning Mohammad Ghouse Syed, United States O-011 A Discovery-driven Glycoproteomic Workflow Reveals Candidate Plasma Biomarkers for Congenital Disorders of Glycosylation Maria Blomqvist, Sweden O-012 SLC39A8-related Manganese Deficiency: Phenotypic Spectrum and Treatment Response in an International Cohort of 31 Patients Julien Park, Germany O-013 Development of a splice-switching antisense oligonucleotide fora deep-intronic ATP6AP1-CDG variant Ludvík Hejl, The Netherlands O-014 Preliminary results from a PMM2-CDG natural history study: the international cooperative assessment of ataxia scale Fabio Pettinato, Italy O-015 Complex Ganglioside Deficiency as a Hallmark of Golgi-Related CDG Peter Witters, Belgium O-016 AAV9-PMM2 therapy rescues neuronal phenotypes in a human corticalorganoid model of PMM2-CDG Tamas Kozicz, United States O-017 COG5-CDG organoids reveal a novel role for Golgi organization in human brain development Elena Taverna, Italy A3: Mitochondrial disorders Hall 5B CHAIRS: Johan van Hove (United States) and Pirjo Isohanni (Finland) O-019 Novel ACAA2 variant causes autosomal dominant metabolic disorder with infantile hypoglycemia, steatohepatitis, lipodystrophy, lipomatosis Mary Kate LoPiccolo, United State O-020 Modulation of redox homeostasis in malate-aspartate shuttle deficiencies: mechanistic and therapeutic insights Hannah German, The Netherlands O-021 PDH Deficiency: Outcome and Therapeutic Management in a Large French Cohort of Patients Born before 2010 Cecilia Marelli, France O-022 Pleuroparenchymal Fibroelastosis in patients with DGUOK-deficiency – a case series Anibh Das, Germany O-023 Sodium valproate in non-POLG primary mitochondrial disease: safety and effectiveness from an international survey Marcello Bellusci, Spain O-024 Evolutionarily conserved temperature dependency leads to loss of proteinO-GlcNAc in complex III deficient mice Christa Kietz, Finland O-025 When silence is noise: a silent start codon single nucleotide variant impairs mitochondrial RNA processing Saskia Wortmann, Austria O-026 MECP2-Dependent LYRM4 Deficiency Leads to Multifaceted Mitochondrial Dysfunction and Derailed Neuronal Maturation Gerarda Cappuccio, United States O-027 Tetrahydrobiopterin metabolism is a shared vulnerability in acquired andprimary mitochondrial deficiencies Luisa Cruz, Brazil O-029 Consensus statements for diagnostic criteria and management of MELAS and stroke-like episodes Shamima Rahman, United Kingdom A4: Gene and innovative therapies Hall 5A CHAIRS: Nicola Brunetti-Pierri (Italy) and Mervi Hyvönen (Finland) O-030 Development of mRNA therapy in clinically relevant mouse models of Glycogen Storage Disease type 1b Lucia De Stefano, Italy O-031 Efficacy and nutritional changes from a phase 3 trial of DTX401 gene therapyfor GSDIa Andrea B. Haijer-Schreuder, The Netherlands O-032 Liver-Directed AAV-mediated Gene Therapy for Wolman Disease Iolanda Boffa, Italy O-033 AMT-191 gene therapy in males with Fabry disease; phase 1/2 initial safetyand biomarker results Maryam Banikazemi, United States O-034 AAV and mRNA therapies: A sequential and mirror therapeutic approach in MSUD Clément Pontoizeau, France O-035 Data from 50+ cumulative patient years exposure to mRNA-3927,an investigational treatment for propionic acidemia BC Schwahn, United Kingdom O-036 In vivo gene editing in a novel mouse model of argininosuccinate lyase deficiency Timo Keskinen, Finland O-037 Hepatocyte-specific gene replacement improves energy metabolism and survival in mouse model of mitochondrial CIII deficiency Rishi Banerjee, Finland O-038 Dual mRNA lipid nanoparticles rescue metabolic performance in a mouse model of trifunctional protein deficiency Troy von Beck, United States O-039 Single-vector AAV8 genome editing overcomes the dominant-negative effect in mitochondrial trifunctional protein deficiency mouse Tatiana Terranova, United States O-040 CRISPR base editing as a one-fits-many gene editing therapy for OTC deficiency Sven Klassa, Switzerland |
| 17:50 - 18:30 | Garrod Award Lecture: Cystathionine
β-synthase deficiency in the E-HOD registry Hall 1 CHAIR: Matthias Baumgartner (Switzerland) Andrew Morris (United Kingdom) |
| 18:30 - 21:00 | Welcome Reception, Posters Halls 4 & 5 (Exhibition and Poster area) |
| 19:30 - 20:30 | YSSIEM (Young SSIEM) Inaugural Meeting Hall 5A (open to all) |
Wednesday 26 August
| 07:30 - 08:30 | Speed Mentoring Meeting room 101C (details to follow) |
| 07:30 - 08:30 | Satellite meetings by the sponsors Halls 5A, 5B, 5C and 101AB |
| 08:00 - 08:30 | Lab Talk by Philippa Mills (United Kingdom) Meeting Room 208 |
| 08:45 - 10:15 | From presentation to diagnosis: a case-based education session with the SSIEM Educational and Training (ETAC) Academy Hall 1 CHAIR: Elaine Murphy (United Kingdom) |
| 08:45 - 10:15 | Parallel abstract sessions B B1: Fatty acid oxidation and related disorders Hall 5A CHAIRS: Ute Spiekerkoetter (Germany) and Jerry Vockley (United States) O-041 Mortality in fatty acid oxidation disorders despite newborn screening: insights from a European multicentre survey. Marie-Cecile Nassogne, Belgium O-042 Validation of carnitine transport (OCTN2) activity assay in cultured urothelial cells for primary carnitine deficiency Sacha Ferdinandusse, The Netherlands O-043 N-Adipyl-D-Ala-D-His as a Superior Anaplerotic Therapy for VLCAD Deficiency in a Knockout Mouse Model Al-Walid Mohsen, United States O-044 Long-term clinical outcomes of patients with VLCAD deficiency identified by newborn screening Luisa Burgenmeister, Germany O-045 Metabolic rerouting drives odd-chain lipid enrichment in mitochondrial β-oxidation disorders Viktorija Juric, Austria O-046 The Circulating Non-Coding Genome Reveals a Distinct Interferon Signature in X-linked Adrenoleukodystrophy Lara M Marten, Germany O-047 Hydroxylated long-chain acylcarnitines cause Schwann cell bioenergetic failure: implications for LCHADD/MTPD peripheral neuropathy Chen Zhang, Denmark B2: Clinical studies and real world data Hall 5B CHAIRS: David Cassiman (Netherlands) and Allan Lund (Denmark) O-048 The Online Inherited Metabolic Diseases (OIMD) knowledgebase Johannes Zschocke, Austria O-049 Genetic diagnosis network and sustainable registry for real-world evidence in inborn errors of metabolism Takashi Hamazaki, Japan O-050 A Multinational Study of Patient Characteristics, Management and Outcomes in Lesch-Nyhan Syndrome Alwyn Charles, Ireland O-051 International Recommendations on Use of Brain MRI for Screening, Monitoring, and Research in Cerebral Adrenoleukodystrophy Hemmo Yska, France O-052 Results from a phase 2 study evaluating the effects of GLM101 in patients with PMM2-CDG Mel McSweeney, United Kingdom O-053 Cognition and Ataxia Benefits of Venglustat in GD3: Prespecified Analyses of Neurologic Endpoints in LEAP2MONO Pramod K Mistry, United States O-054 Therapeutic Strategies in Adult Cerebral Adrenoleukodystrophy: Balancing Hematopoietic Stem Cell Transplantation and Leriglitazone Fanny Mochel, France O-055 Bridging the Treatment Gap: A Systematic 10-Principle Framework for Drug Repurposing in Inherited Metabolic Diseases Clara van Karnebeek, The Netherlands B3: Newborn screening Hall 5C CHAIRS: Trine Tangeraas (Norway) and Giancarlo la Marca (Italy) O-056 Newborn screening for alpha-mannosidosis: quantitative assessment of a novel biomarker in dried blood spots Simona Murko, Germany O-057 First prospective newborn screening for metachromatic leukodystrophy enables presymptomatic intervention Thomas Neisse, Germany O-058 Comprehensive newborn screening of lysosomal diseases: insights from the LysoNeo study Soumeya Bekri, France O-059 smMIP-based genomic newborn screening in India: prospective validation against tandem mass spectrometry and whole-exome sequencing Harsh Sheth, India O-060 Expanded Newborn Screening by Tandem Mass Spectrometry: 25-year experience in Tuscany and Umbria regions (Italy) Giancarlo la Marca, Italy O-061 A Novel Predictive Metabolomic Algorithm for Genotype-Phenotype Stratification in Newborn Screening of β-Oxidation Defects Michela Perrone Donnorso, Italy O-062 CRINGENES: A National Pilot Integrating Genomics, Metabolomics, and Functional Testing to Enhance Newborn Screening Judit Garcia-Villoria, Spain |
| 10:30 - 14:00 | Patient advocacy group (PAG) session: Making PAG work sustainable Meeting room 101D CHAIRS: Päivi Miettinen (Finland) and Anita Ingwood (Australia) |
| 10:40 - 12:15 | Plenary 2 - New Diseases and Mechanisms Hall 1 CHAIRS: Mirjam Langeveld (Netherlands) and Henna Tyynismaa (Finland)
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| 12:00 - 14:00 | Drug Repurposing Consortium meeting Meeting room 203B |
| 12:20 - 12:50 | SSIEM Advisory Council & Council meeting Hall 5C (by invitation only) |
| 13:00 - 14:00 | SSIEM Annual General Meeting (AGM) Hall 5C (SSIEM members only) |
| 14:00 -16:00 | SSIEM Dietitians’ Group business meeting Hall 5 C (SSIEM DG members only) CHAIR: Alice Dianin 14:00-14:15 Welcome and report from the SSIEM DG Committee Alice Dianin (Italy) and Charlotte Ellerton (United Kindgom) 14:15-14:35 Metabolic dietitians’ education and workforce project Martina Tosi (Italy) and Fiona White (United Kindgom) 14:35-15:15 short oral presentations and discussion: - Use of Glycomacropeptide (GMP) in Maternal PKU; a multicentre prospective observational study Charlotte Ellerton (United Kingdom) - Impact of Low Phenylalanine Free Diet on Compliance and Metabolic Control in Tyrosinemia Type 1 Esma Uygur (Turkey) - Infantile-onset lysosomal acid lipase deficiency – impact of fat intake on growth and duodenal histology Fiona White (United Kingdom) 15:15-15:55 Celebration of 30 years of European Metabolic Dietitians and SSIEM Dietitians Group Anita MacDonald lecture: "Past, present, and future roles of metabolic dietitians" Júlio César Rocha (Portugal) 15:55-16:00 Closing of the session | |
| 14:00 - 16:00 | Ensuring Patient Access to Innovation in Rare Diseases Hall 1 CHAIRS: Cary Harding (United States), Kirmo Wartiovaara (Finland) Accelerating access to orphan drugs through regulatory innovation Janet Woodcock (United States) Recent EU regulatory developments and useful tools for orphan drug development Kristina Larsson (Netherlands) Economic realities and the case for patient-centered orphan drug access models Barbara Yu (United Kingdom) From research to approval: a non-profit development and distribution model for rare disease gene therapies Ilaria Villa (Italy) Panel and Audience Discussion PANELISTS: Speakers and Julien Baruteau (United Kingdom) | |
| 14:15 - 15:45 | Parallel abstract sessions C C1: Disorders of vitamins and cofactors Hall 5A CHAIRS: Bernd Schwann (United Kingdom) and Barbara Plecko (Austria) O-063 Preclinical Evaluation of Iron Nanoclusters for IRIDA Therapy: Efficacy and Safety Assessment Eva Feigerlova, France O-064 Towards a new definition of cobalamin C and epi-cobalamin deficiency in the newborn screening era Giorgia Olivieri, Italy O-065 Descriptive analysis of clinical and genetic characteristics in 114 patients with cblE-MTRR or cblG-MTR disease Anna Huemer, Austria O-066 Dried blood spot vitamin B₆ vitamer profiling reveals altered B₆ homeostasis in ALDH7A1-related pyridoxine-dependent epilepsy Fatimah Almousawi, United Kingdom O-067 Copper Nanoclusters Delivered Prenatally Mitigate Neurological, Mitochondrial, and Vascular Deficits in Menkes Disease François Feillet, France O-068 Essential single nutritional therapy products for IMDs: Evidence and consensus assessment using modified Delphi method Nina Stolwijk, The Netherlands O-069 Perinatal Lysine Drives Neurodevelopmental, Metabolic, and Neuropathological Outcomes in a Mouse Model of Pyridoxine-Dependent Epilepsy Hilal Al-Shekaili, Oman O-070 Vitamin B6-dependent and independent alterations in pyridoxal phosphate-binding protein deficiency identified by large-scale metabolomics profiling Jolita Ciapaite, The Netherlands O-071 NAD(P)HX Repair Deficiency Triggers Glial Loss, Excitatory Shift, and Metabolic Collapse in Human Brain Organoids Joshua Manor, Israel O-072 NADHX Repair Deficiency: From Case Reports to Multi-Omics Characterization of Systemic Metabolic and Cellular perturbations Najmesadat Seyedkatouli, Luxembourg O-073 Clinical spectrum and treatment outcomes in Cobalamin D deficiency: A retrospective multicentre cohort study Julia Neugebauer, Germany C2: New methods Hall 5B CHAIRS: Yngve Thomas Bliksrud (Norway) and Andrea Dardis (Italy) O-074 Proteome-wide mapping of S-adenosylmethionine interactions reveals novel regulatory targets Evgeniya Warmer, Switzerland O-075 UHPLC/HRAM-MS profiling of endogenous urinary GAG-oligosaccharides for rapid mucopolysaccharidoses screening Marne Hagemeijer, The Netherlands O-076 Implementing user-engaged IEM research for accelerating positive societal impact Cyrille Thinnes, Ireland O-077 An AI-Driven Multilayer Model of Lung Involvement in Neuronopathic Gaucher Disease (nGD) and Management Strategies Ozlem Goker-Alpan, United States O-078 Whole-body modelling captures biomarker changes in TYMP deficiency (MNGIE) Martina Messina, United Kingdom O-079 An integrative orthology and model organism-based predictive framework for IMD gene discovery Travis Johnson, Australia O-080 Hexose-phosphate remodeling in congenital disorders of glycosylation revealed by tracer metabolomics Bart Ghesquiere, Belgium O-081 Structural lipidomics reveals dolichyl phytanates and a compensatory PUFA redistribution in Refsum disease Frederic Vaz, The Netherlands O-082 RAINDROP: leveraging a large fibroblast cohort to establish multi-omics diagnostics of IEM Vito Zanotelli, Switzerland | |
| 16:30 - 17:30 | Plenary 3 - Physics and Mathematics Enter the World of IEM Hall 1 CHAIRS: Angeles Garcia Cazorla (Spain) and Fanny Mochel (France)
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| 17:30 - 18:30 | Poster Walk | |
| 18:00 - 20:00 | GalNet meeting Meeting room 203B (by invitation only) | |
| 18:30 - 19:30 | Satellite meetings by the sponsors Halls 5A, 5B, 5C and 101AB | |
| 20:00 - 22:00 | Young Investigators Evening Restaurant Korjaamo | |
Thursday 27 August
| 07:00 - 08:00 | EHOD – CBS guidelines group Meeting room 104 (by invitation only) |
| 07:30 - 08:30 | Speed Mentoring Meeting room 101C (details to follow) |
| 07:30 - 08:30 | Satellite meetings by the sponsors Halls 5A, 5B, 5C and 101AB |
| 08:30 - 09:00 | LAB Talk by Sean Froese (Switzerland) Meeting room 208 |
| 09:00 - 10:30 | Plenary 4 - OMICS data help us understand pathology in metabolic pathways Hall 1 CHAIRS: Philippa Mills (United Kingdom) and Pasi Nevalainen (Finland)
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| 11:00 - 12:30 | Parallel abstract sessions D D1: Lysosomal disorders Hall 1 CHAIRS: Roberto Giugliani (Brazil) and Kaustuv Bhattacharaya (Ireland) O-083 Presymptomatic and symptomatic disease stage-associated outcomes of cerliponase alfa treatment in siblings with CLN2 disease Lena Marie Westermann, Germany O-084 Cerliponase alfa for the treatment of CLN2 disease: Combined results from two ongoing observational studies Angela Schulz, Germany O-085 Screening of Mucopolysaccharidoses in High-Risk Patients: Comparison Among Three Different Strategies in Urine Roberto Giugliani, Brazil O-086 Long-term real-world outcomes of enzyme replacement therapy in MPS I: a 10-year single-centre cohort study Karla Cifuentes-Uribe, France O-087 CSF heparan sulfate disaccharides across the phenotypic spectrum of MPS IIIA Marion Brands, The Netherlands O-088 UX111 reduced cerebrospinal fluid heparan sulfate exposure and stabilized or improved functioning in MPS IIIA Maria J. de Castro Lopez, Spain O-089 Integrated Clinical, Biochemical, and Genetic Characterization of α-Mannosidosis in a Spanish Cohort: The α-REVEAL Study Belén Pérez, Spain O-090 Secondary Mitochondrial Dysfunction in Alpha-Mannosidosis: Implications for Disease Pathophysiology and Therapeutic Targeting Mollie Dewsbury, United Kingdom O-091 Oxysterols and PPCS as biomarkers for Niemann-Pick disease type C: differential diagnosis and pitfalls. Cecile Pagan, France O-092 Long-term assessment of motor function, muscle strength and respiratory function in classic-infantile Pompe disease Julia Holdorp, The Netherlands D2: Nurses’ and allied healthcare professionals’ meeting Hall 5C CHAIRS: Maureen Evans (Australia) and Mel McSweeney (United Kingdom) O-093 A single centre functional evaluation and exercise trial in Glycogen Storage Disease Type III patients Amy Young, United Kingdom O-094 Divergent Long-Term Outcomes in Two Siblings with Mucopolysaccharidosis Type VI Despite Early Enzyme Replacement Therapy Anita Inwood, Australia O-095 Rehabilitation healthcare follow-up in patients with Cystinosis – outcomes and experiences Annemarie de Vreugd, The Netherlands O-096 Beyond Pediatrics: 40% of Metabolic Patients Are Now Adults Gustavo Spolador, Brazil O-097 Metabolic Pharmacist Roles Across the United Kingdom: Current Practice and Service Provision Antonio Ochoa-Ferraro, United Kingdom D3: Neurometabolic disorders Hall 5B CHAIRS: Gajja Salomons (Netherlands) and Andreas Schulze (Canada) O-098 Exploring Disease Mechanisms in AADC Deficiency Using 3D Patient-Derived Midbrain Organoids and Metabolomic Profiling Mari Oppebøen, Norway O-099 A tool for predict AADC deficiency from genotype: the impact of the characterized AADC variants Mariarita Bertoldi, Italy O-100 Creatine Homeostasis is Controlled via Multilayered Negative Creatine Feedback Loops Mike Tropak, Canada O-101 Altered Creatine Metabolism in Spinal Muscular Atrophy, Jokela Type Sandra Harjuhaahto, Finland O-102 Adult Phenotype and Clinical Outcomes in Grin-Related Developmental and Epileptic Encephalopathies Natalia Juliá-Palacios, Spain O-103 Levodopa responsiveness in IEM: a systematic review and case series, beyond neurotransmitter defects Paula Juliana Rodriguez Soler, Spain D4: Organic acidurias Hall 5A CHAIRS: Harri Niinikoski (Finland) and Matthias Baumgartner (Switzerland) O-104 25 years of newborn screening for glutaric aciduria type 1: an Australian centre’s experience Arthavan Selvanathan, Australia O-105 Early liver transplant in propionic and methylmalonic aciduria: differences and similarities at follow-up Benedetta Greco, Italy O-106 Cryo-electron microscopy tomography reveals N-adipyl-D-Ala-D-His ameliorates mitochondrial structural abnormalities in propionic acidemia patient cells Zachary Freyberg, United States O-107 Residual propionyl-CoA carboxylase enzymatic activity predicts responsiveness to pseudoexon-skipping antisense oligonucleotide therapy in propionic acidemia Eriko Totsune, Japan O-108 Propionic acidemia impairs TCA cycle anaplerosis and cataplerosis in hiPSC-derived brain organoids Irene González Garnacho, Spain O-109 Long term Follow-up After Transplantation in Propionic Acidemia: A Retrospective French Cohort Study Tristan Mekdade, France O-110 Malonyl-CoA decarboxylase catalyzes a new pathway for propionate catabolism in methylmalonic aciduria Caroline T. Glatthard-Frei, Switzerland O-111 Energy metabolism is rewired in methylmalonic aciduria Lisa Tidecks, Switzerland |
| 11:15 - 12:15 | JIMD Editors meeting Meeting room 203B (by invitation only) |
| 12:30 - 13:30 | Gyrate Atrophy Meeting |
| 13:30 - 15:00 | Plenary 5 - Mitochondria Now and Forever Hall 1 CHAIRS: Shamima Rahman (United Kingdom) and Peter Freisinger (Germany)
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| 15:30 - 17:00 | Training in IEM: A roundtable discussion (paed/adult clin, clin lab, diet, nursing) Hall 5C CHAIRS: Sandra Sirrs (Canada), Risto Lapatto (Finland) TALKS BY: Sandra Sirrs (Canada), Dulce Quelhas (Portugal), Ann Bowron (United Kingdom), Alice Dianin(Italy), Anita Inwood (Australia), Risto Lapatto (Finland) Discussion |
| 15:30 - 17:00 | Parallel abstract sessions E E1: Phenylketonuria Hall 1 CHAIRS: Anita MacDonald (United Kingdom) and Francjanvan Spronsen (Netherlands) O-113 Which Phe is it?: Visualising the effect of lifetime Phe on neurocognition in adult PKU-patients Ellis van Steenis, The Netherlands O-114 MyGut4Phe: An Italian Multicentre Pilot Study on Gut Microbiota Composition in Infants with Hyperphenylalaninaemia Elvira Verduci, Italy O-115 Redefining the number of true null PAH variants in phenylketonuria and sepiapterin response Nicola Longo, United States O-116 Sepiapterin Enables Liberalisation of Natural Protein Intake While Maintaining Metabolic Control in Adolescents with Phenylketonuria Anita MacDonald, United Kingdom O-117 Re-evaluating Sapropterin Responsiveness in PKU Using Dose Escalation Beyond 20 mg/kg/day Christine Horne, United States O-112 Evaluation of CDX-6114, an Acid-Stable Oral Phenylalanine Ammonia Lyase, in aPorcine Model of PKU Jerry Vockley, United States O-118 Improved efficacy with sepiapterin in participants with phenylketonuria receiving sapropterin at study screening in AMPLIPHY Maria Giżewska, Poland O-119 Intra-individual variation of in vivo Phenylalanine oxidation using the 13C-Phenylalanine breath test in Phenylketonuria Sietske Haitjema, The Netherlands O-120 Long-term metabolic control, renal, bone and neuropsychiatric features in early-treated phenylketonuria adults: 5-year study Yannick Moutapam-Ngamby-Adriaansen, France E2: Urea cycle disorders Hall 5B CHAIRS: Yair Anikster (Israel) and Johannes Häberle (Switzerland) O-121 Newly established hepatic cell model of citrin deficiency uncovers defects in mitochondrial function and ureagenesis Toni Vukovic, Switzerland O-122 The experimental structure of yeast N-acetylglutamate synthase (NAGS) sheds light on human NAGS deficiency (NAGSD) Vicente Rubio, Spain O-123 Extended Follow-up of DTX301: Safety and Efficacy in Adults with Late-onset Ornithine Transcarbamylase Deficiency (OTCD) Nathalie Guffon, France O-124 Decreased rate of hyperammonemic crises in infants with neonatal-onset OTC deficiency post ECUR-506 administration Julien Baruteau, United Kingdom O-125 Preclinical validation of anaplerotic therapies to promote ureagenesis in urea cycle defects Nathan Breuillard, Switzerland O-126 Metabolic dysfunction–associated steatotic liver disease and fibrosis in adults with UCDs: a cross-sectional study Nicola Vitturi, Italy E3: Carbohydrate disorders Hall 5A CHAIRS: Terry Derks (Netherlands) and Alessandro Rossi (Italy) O-127 Developmental and transcriptional consequences of Classic GalactosemiaE Naomi Vos, The Netherlands O-128 Longitudinal multimodal neuroimaging analyses in GLUT1 deficiency syndrome Agata Maria Capodiferro, France O-129 Liver-specific phospho-proteomic profiling reveals remodeling of insulin signaling in a mouse model of GSD Ia Margherita Ruoppolo, Italy O-130 Clinical Impact of Biotin Supplementation on Glucose Homeostasis in Glycogen Storage Disease Type Ia Sema Kalkan Uçar, Turkey O-131 Impact of early liver transplantation in four young patients with glycogen storage disease Ia Maria Caprella, Italy O-132 Are the different SGLT2 inhibitors equally effective in treating neutropenia in GSDIb and G6PC3 deficiency? Maria Veiga-da-Cunha, Belgium |
| 17:00 - 18:00 | Poster viewing |
Friday 28 August
| 07:15 - 08:15 | ICIEM IOC Meeting Meeting room 104 (by invitation only) |
| 08:15 - 09:00 | ICIEM SciOrg Meeting Meeting room 104 (by invitation only) |
| 09:00 - 10:15 | Late-Breaking News: 5 talks Hall 1 CHAIRS: Ivo Baric (Croatia) and Tomas Honzik (Czech Republic) ANGEL2 deficiency as possible cause of mitochondriopathy – clinical andbiochemical findings Anibh M. Das (Germany) Failure of inflammation resolution defines cerebral X-linked adrenoleukodystrophy and is reversed by hematopoietic stem cell transplantation Aurora Pujol (Spain Defining Infantile Niemann-Pick Disease Type C: Plasma Neurofilament Light, Genotype-Phenotype Correlations, and Severity Scoring Berna Seker Yilmaz (United Kingdom Ivosidenib Reverses the Neurological Phenotype in Ollier Disease with D-2-Hydroxyglutaric Aciduria: Proof of Concept for Precision Therapy Diego Martinelli (Italy) Structure-based drug discovery of aminoadipate semialdehyde synthase(AASS), a therapeutic target for lysine metabolic disorders Wyatt W. Yue (United Kingdom) |
| 10:45 - 12:15 | Plenary 6 - Looking Forward Hall 1 CHAIRS: Ina Knerr (Ireland) and Robin Lachmann (United Kingdom)
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| 12:15 - 13:00 | Komrower Lecture Hall 1 CHAIR: Manuel Schiff (France)
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| 13:00 - 13:20 | Closing session Hall 1 CHAIRS: Manuel Schiff (United Kingdom) and Risto Lapatto (Finland) LBN Awards, Posters Summary SSIEM 2027 Dublin presentation |