Scientific Programme


You can find an overview of the preliminary program below.

Day 1Tuesday 3 September 2019
de Doelen
Welcome Lunch
Grote Zaal
Opening Ceremony SSIEM 2019
Chair: A. van der Ploeg
Grote Zaal
Plenary Session 1: Building Bridges
Chairs: J. Smeitink (Nijmegen, The Netherlands), H. Michelakakis (Athens, Greece), G. Salomons (Amsterdam, The Netherlands)
14.30-15.00Organoids as models of human disease
Hans Clevers (Utrecht, The Netherlands)
15.00-15.30The role of DNA damage repair and transcription stress in aging and the
impact of nutrition
Jan Hoeijmakers (Rotterdam, The Netherlands)
15.30-16.00 The lysosome as a control center of cell metabolism
Andrea Ballabio (Naples, Italy)
16:00-16:30Coffee Break
Grote Zaal
Plenary Session 2: RNA based therapy and Gene therapy
Chairs: P. Pijnappel (Rotterdam, The Netherlands), F. Mingozzi (Philadelphia, USA)
16.30-17.00AAV gene therapy for inherited diseases
Alberto Auricchio (Naples, Italy)
17.00-17.30 HSC gene therapy for neurometabolic and neurodegenerative disorders
Alessandra Biffi (Cambridge, USA)
17.30-18.00Opportunities and challenges for RNA and DNA therapy development
Annemieke Aartsma Rus (Leiden, The Netherlands)
Grote Zaal
Chair: E. Morava (Rochester, USA)
Urea cycle disorders: of ammonia, dialysis and future directions of management
Johannes Häberle (Zurich, Switzerland)
Day 2Wednesday 4 September 2019  
9:00-10:30Parallel sessions 1A-1D
Grote ZaalParallel Session 1A: Gene therapy
Chairs: G. Ronzitti (Évry, France), A. Auricchio (Naples, Italy)
09:00-09:15O-018 | A phase 1/2 clinical trial of AAV8 gene therapy in adults with late-onset OTC deficiency: CAPtivate cohort 1 + 2 results

T. Geberhiwot (Birmingham, United Kingdom)
09:15-09:30O-021 | Hematopoietic stem cell gene therapy for Mucopolysaccharidosis type I, Hurler variant (MPS-IH)

M.E. Bernardo (Milan, Italy)
09:30-09:45O-016 | Lentiviral (LV) hematopoietic stem cell gene therapy (HSC-GT) for metachromatic leukodystrophy (MLD) provides sustained clinical benefit
V. Calbi (Milan, Italy)
09:45-10:00O-019 | Three year open label phase 2a investigation of venglustat safety and exploratory efficacy in classic Fabry patients

P. Deegan (Cambridge, United Kingdom)
10:00-10:15O-015 | Positive cohort 1 results from the phase 1/2, AAV8-mediated liver-directed gene therapy trial in glycogen storage disease type Ia (GSDIa)
T.G.D. Derks (Groningen, The Netherlands)
10:15-10:30O-020 | AAV Gene Therapy For Glycogen Storage Disease Type 3
V.P. Vidal (Evry, France)
Willem Burger ZaalParallel Session 1B: Amino acid disorders (including PKU) and urea cycle disorders
Chairs: S. Grunewald (London, United Kingdom), F. van Spronsen (Groningen, The Netherlands)
09:00-09:15O-030 | Targeting CPS1: From CPS1 deficiency to lung tumor regression
G. Makris (Zurich, Switzerland)
09:15-09:30O-032 | Enhancement of hepatic autophagy for therapy of argininosuccinic aciduria

L.R. Soria (Pozzuoli, Italy)
09:30-09:45O-029 | First crystal structure of DHTKD1 provides insight into catalysis and disorders of lysine metabolism
G.A. Bezerra (Oxford, United Kingdom)
09:45-10:00O-027 | A Phase 1/2a Oral Placebo-controlled Study of SYNB1618 in Healthy Adult Volunteers and Subjects with Phenylketonuria
J. Vockley (Pittsburgh, USA)
10:00-10:15O-031 | Pharmacologic rescue of hyperammonemia-induced neurotoxicity by OAT-inhibition in a zebrafish model of acute hyperammonemic encephalopathy
M. Zielonka (Heidelberg, Germany)
10:15-10:30O-028 | Manipulating folate metabolism achieves near-normal homocysteine without methionine restriction in homocystinuric mice
K.N. MacLean (Aurora, USA)
Jurriaanse ZaalParallel Session 1C: Glycosylation and carbohydrate disorders
Chairs: D. Lefeber (Nijmegen, The Netherlands), D. Quelhas (Porto, Portugal)
09:00-09:15O-065 | D-galactose supplementation in SLC35A2-CDG leads to clinical and biochemical improvement
P. Witters (Leuven, Belgium)
09:15-09:30O-062 | Crystal structure of human PMM2 enzyme as a model to evaluate missense variants amenable to be rescued using pharmacological chaperones
A. Briso-Montiano (Madrid, Spain)
09:30-09:45O-064 | Glycoproteomics for improved diagnosis of the Congenital Disorders of Glycosylation (CDG)

M.A. Post (Nijmegen, The Netherlands)

09:45-10:00O-063 | Using tracer metabolomics to investigate metabolic effects of galactose in different CDG
S. Radenkovic (Leuven, Belgium)
10:00-10:15O-039 | Nucleotide sugar profile in the galactosemia zebrafish model reveals new pathogenic mechanisms and potential readouts
M.E. Rubio-Gozalbo (Maastricht, The Netherlands)
10:15-10:30O-038 | Biallelic GALM pathogenic variants cause type IV galactosemia
Y.W. Wada (Sendai, Japan)
Van Weelde ZaalParallel Session 1D: Disorders of haem biosynthesis, vitamins, purines and pyrimidines
Chairs: P. Mills (London, United Kingdom), A. Garcia Cazorla (Barcelona, Spain)
09:00-09:15O-068 | New insights in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency from zebrafish and cell models
J. Ciapaite (Utrecht, The Netherlands)
09:15-09:30O-070 | Gamma aminobutyric acid and tricarboxylic acid pathways in knock-out aldh7a1 zebrafish for pyridoxine-dependent epilepsy
S. Mercimek-Andrews (Toronto, Canada)
09:30-09:45O-069 | PLPHP deficiency: Clinical, genetic, biochemical, and mechanistic insights
C.D. van Karnebeek (Amsterdam, The Netherlands)
09:45-10:00O-050 | Clinical effectiveness of afamelanotide in patients with erythropoietic protoporphyria: an observational study

D. Wensink (Rotterdam, The Netherlands)
10:00-10:15O-066 | Induced pluripotent stem cells (iPSCs) and iPSC-derived cerebral organoids as a model of Succinic Semialdehyde Dehydrogenase Deficiency
H. Brennenstuhl (Heidelberg, Germany)
10:15-10:30O-049 | Thymidylate kinase deficiency due to mutations in TYMK is the cause of a novel vanishing white matter disease.

J. Bierau (Maastricht, The Netherlands)
10:30-11:00 Coffee Break
Grote Zaal
Plenary Session 3: Regenerative medicine
Chairs: G. Schaaf (Rotterdam, The Netherlands), J. Häberle (Zurich, Switzerland)
11.30-12.00Hurdles in successful examples of stem cell-based regenerative medicine
Graziella Pellegrini (Modena, Italy)
12.00-12.30On Ex vivo gene editing studies with human hepatocytes form patients with
urea cycle defects
Stephen Strom (Stockholm, Sweden)
11.00-11.30Human induced pluripotent stem cells come of age in modeling
cardiovascular disease
Christine Mummery (Leiden, The Netherlands)
14:30-16:00Parallel sessions 2A-2C
Grote ZaalParallel Session 2A: Lysosomal storage disorders
Chairs: M. del Toro (Barcelona, Spain), M. Scarpa (Heidelberg, Germany)
14:30-14:45O-059 | Benefits of higher and more frequent dosing and immunomodulation on long-term outcome in classic infantile Pompe disease

E. Poelman (Rotterdam, The Netherlands)
14:45-15:00O-057 | A natural disease history study and a meta-analysis of published cases improve clinical knowledge on Multiple Sulfatase Deficiency
L. Schlotawa (Goettingen, Germany)
15:00-15:15O-055 | Acid ceramidase deficiency presenting as Farber disease: prospective and retrospective clinical data from an ongoing natural history study
P. Harmatz (Oakland, USA)
15:15-15:30O-056 | Persistent treatment effect of cerliponase alfa in children with CLN2 disease: A 3 year update from an ongoing multicenter extension study

A. Schulz (Hamburg, Germany)
15:30-15:45O-054 | Losartan or Propanolol treatment restores Erk1/2 activity during the cardiac remodelling of mucopolysaccharidosis type-I mice
E. A. Gonzalez (Porto Alegre, Brazil)
15:45-16:00O-061 | Intrathecal VTS-270 For The Treatment Of Niemann-Pick Disease, Type C1
P. Gissen (London, United Kingdom)
Willem Burger ZaalParallel Session 2B: Advances in diagnostics (including omics)
Chairs: A. Ribes (Barcelona, Spain), B. Plecko (Zürich, Switzerland)
14:30-14:45O-014 | The ‘Cryo-Electron Microscopy Revolution’ for structure determination of metabolic enzyme complexes
H. J. Bailey (Oxford, United Kingdom)
14:45-15:00O-012 | Discovery of novel antiquitin deficiency biomarkers through the combination of untargeted metabolomics and infrared ion spectroscopy.
K.L.M. Coene (Nijmegen, The Netherlands)
15:00-15:15O-013 | The Impact of Mitochondrial Bioenergetics on Metabolic Pathways by Real-time NMR of 3D Cell Cultures

D.H. Hertig niti (Bern, Switzerland)
15:15-15:30O-009 | Multiplex testing for the diagnosis of disorders involving sulfatide degradation

K.M. Raymond (Rochester, USA)
15:30-15:45O-010 | Algorithms for interpretation of (multi)-omics in metabolic diagnostics
J.J.M. Jans (Utrecht, The Netherlands)
15:45-16:00O-011 | Mitochondrial DNA mutation analysis from exome sequencing – a holistic approach in diagnostics of mitochondrial disease

M. Wagner (Munich, Germany)
Jurriaanse ZaalParallel Session 2C: Nutrition and Dietetics
Chairs: E. van der Louw (Rotterdam, The Netherlands), S. Grünert (Freiburg, Germany)
14:30-15:00Update Lecture: Working mechanism of ketogenic diet

J. Rho (San Diego, USA)
15:00-15:15O-024 | Outcome after liver transplantation in paediatric IMD- survival, growth and hospital admissions experience from one centre

A. Daly (Birmingham, United Kingdom)
15:15-15:30O-023 | The dietetic and biochemical basis of trimethylaminuria in one Adult Metabolic Centre.
J. Banks (Salford, United Kingdom)
15:30-15:45O-026 | Arginine supplementation’s impact on lysine metabolism in humans: A proof-of-concept for lysine-related inborn errors of metabolism
Z. Schmidt (Vancouver, Canada)

15:45-16:00O-025 | MyRareDiet®: A diet tracking and monitoring mHEALTH tool for research and clinical care for patients with inborn errors of metabolism.
D. G. Hook (Davis, USA)

16:00-16:30Coffee break
Grote Zaal
Plenary Session 4: Mitochondrial disorders
Chairs: J. Smeitink (Nijmegen, The Netherlands), C. Dionisi-Vici (Rome, Italy)
16.30-17.00 Moving towards clinical trials for mitochondrial disease
Shamima Rahman (London, United Kingdom)
17.00-17.30The Pursuit of Precision Mitochondrial Medicine: Harnessing pre-clinical and animal models of mitochondrial disease
Marni J. Falk (Philadelphia, USA)
17.30-18.00Mitochondria in Alzheimer disease: It’s not what you think
Eric A Schon (New York, USA)
18:00 – 20:00POSTER WALK
Day 3 Thursday 5 September 2019  

Grote Zaal
Plenary session 5: Metabolomics / System biology 
Chairs: G. Ruijter (Rotterdam, The Netherlands), V. Kozich (Prague, Czech Republic)
09.00-09.30Modeling human metabolism in health and disease
Ines Thiele (Galway, Ireland)
09.30-10.00 Innovative analytical tools for metabolomics-driven systems biology to investigate monogenetic and complex disorders
Thomas Hankemeier (Leiden, The Netherlands)
10.00-10.30Integrative network biology approaches to understand rare inborn errors of metabolism.
Carmen Argmann (New York, USA)
10:30-11:00Coffee break
11:00-12:30Parallel sessions 3A-3D
Grote ZaalParallel Sessions 3A: Disorders of fatty acid oxidation and metabolic myopathies
Chairs: Chairs: R. Wanders (Amsterdam, The Netherlands), J. Vockley (Pittsburgh, USA)
11:00-11:30Update Lecture: Latest insights into metabolic myopathies

P. Laforêt (Paris, France)
11:30-11:45O-042 | A mutation creating an upstream translation initiation codon in SLC22A5 5’UTR is a frequent cause of primary carnitine deficiency 

S. Ferdinandusse (Amsterdam, The Netherlands)
11:45-12:00O-041 | Implication of post-translational modifications on ETF, a Multiple Acyl-CoA Dehydrogenase Deficiency related enzyme 

B. J. Henriques (Lisbon, Portugal)
12:00-12:15O-008 | Novel genetic discoveries in 14 patients with multiple acyl-CoA dehydrogenation deficiency using whole exome sequencing and RNA-seq. 

S. Mosegaard (Aarhus, Denmark)
12:15-12:30O-022 | Modified ketogenic diet in patients with Glycogen Storage Disease type V – a pilot study 

N. Loekken (Copenhagen, Denmark)
Willem Burger ZaalParallel Session 3B: Organic Acidurias
Chairs: M. Williams (Rotterdam, The Netherlands), M. Baumgartner (Zürich, Switzerland)
11:00-11:30Update Lecture: Organic acidurias – it’s about time to bridge the gaps

S. Kölker (Heidelberg, Germany)
11:30-11:45O-036 | Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.

D.S. Froese (Zurich, Switzerland)
11:45-12:00O-034 | Long-term outcome of methylmalonic aciduria after kidney, liver or combined liver-kidney transplantation: the French experience 

A. B. Brassier (Paris, France)
12:00-12:15O-033 | DHTKD1 and OGDH form a hybrid ketoacid dehydrogenase complex with functional redundancy toward α-ketoadipic acid 

J. Leandro (New York, USA)

12:15-12:30O-037 | Metabolic liver disease in a tailored mouse model of mut-type methylmalonic aciduria 

M. Lucienne (Zurich, Switzerland)
Jurriaanse ZaalParallel Sessions 3C: Disease modeling
Chairs: S. Fuchs (Utrecht, The Netherlands), To be announced
11:00-11:15O-060 | Zebrafish as a model to study cystinosis: from pathophysiology to drug screening 

S. P. B. Berlingerio (Leuven, Belgium)
11:15-11:30O-035 | Increased ammonium production and reduced appetite in a knock-in rat model for glutaric aciduria type I challenged with high lysine diet 

M.G.M. Gonzalez-Melo (Lausanne, Switzerland)
11:30-11:45O-040 | CRISPR/Cas9-mediated editing of hepatic G6pc in mice allows to investigate the clinical spectrum of glycogen storage disease type Ia 

M.G. S. Rutten (Groningen, The Netherlands)
11:45-12:00O-073 | Molecular and metabolic consequences of renal carnosinase deficiency 

V. Peters (Heidelberg, Germany)
12:00-12:15O-045 | Brain on a chip; disease modeling and drug screening in a neurophysiological model of MELAS disease 

T. Kozicz (Rochester, USA)
12:15-12:30O-017 | Engineered human iPSC-derived skeletal muscles to model Pompe disease 

P. Herrero-Hernandez (Rotterdam, The Netherlands)
Van Weelde ZaalParallel Sessions 3D: Patient cohorts and follow-up
Chairs: H. Huidekoper (Rotterdam, The Netherlands), J. Hennermann (Mainz, Germany)
11:00-11:15O-076 | Patterns of abnormal movements in neonatal inborn errors of metabolism: study following videofilmation analysis and volumetric brain MRI 

A. Darling (Barcelona, Spain)
11:15-11:30O-077 | Genotype-phenotype correlation and natural history in NBAS deficiency 

C. S. Staufner (Heidelberg, Germany)
11:30-11:45O-058 | Follow-up of patients identified by MPS I newborn screening 

D. Gueraldi (Padova, Italy)
11:45-12:00O-067 | Very long-term follow-up of a series of patients with CblA deficiency 

C. Marelli(Montepellier, France)
12:00-12:15O-052 | PEX12 gene mutation causing a peroxisomal biogenesis disorder among Egyptian patients with founder mutations 

M. S. Zaki (Cairo, Egypt)
12:15-12:30O-051 | Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency 

A. Madeo (Genoa, Italy)
14:00-15:30Parallel sessions 4A-4D / EDUCATIONAL SESSION
Grote ZaalParallel Session 4A: Mitochondrial disorders
Chairs: M. Janssen (Nijmegen, The Netherlands), S. Wortmann (Salzburg, Austria)
14:00-14:15O-046 | KGD4 biallelic variants in two siblings with bilateral striatal necrosis: a new gene of Krebs cycle associated with Leigh syndrome 

S. Galosi (Rome, Italy)
14:15-14:30O-048 - Interferon signature: a new biomarker to follow disease progression in Pearson and Kearns-Sayre syndrome 

D. Martinelli (Rome, Italy)
14:30-14:45O-078 | Assay for simultaneous evaluation of aminoacyl-tRNA synthetase activities: application to mitochondrial aspartyl tRNA synthetase 

M. I. Mendes (Amsterdam, The Netherlands)
14:45-15:00O-047 | No effect of Resveratrol supplementation in patients with mitochondrial myopathy – a randomized, double-blind, cross-over study 

N. Loekken (Copenhagen, Denmark)
15:00-15:15O-001 | A six year prospective follow-up study in 151 carriers of the m.3243A>G mutation. 

P. De Laat (Nijmegen, The Netherlands)
15:15-15:30O-044 | Mutations in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease 

J. L. K. Van Hove (Aurora, USA)
Willem Burger ZaalParallel Session 4B: EDUCATIONAL SESSION: CRISPR/CAS
Chairs: P. Pijnappel (Rotterdam, The Netherlands), R. Hoeben (Leiden, The Netherlands)
14:00-14:30Basics and clinical applications of gene editing: hopes, hypes and hurdles
R. Hoeben (Leiden, The Netherlands)
14:30-15:00Improving gene editing outcomes: separating the good from the bad and ugly
M. Goncalves (Leiden, The Netherlands)
15:00-15:30A bright future for plant genome editing: implications for global food production and societies
S. Smeekens (Utrecht, The Netherlands
Jurriaanse ZaalParallel Session 4C: Metabolic disorders in adults
Chairs: M. Wagenmakers (Rotterdam, The Netherlands), E. Murphy (London, United Kingdom)
14:00-14:15O-003 | Eye movement disorders as an aid to early detection of late-onset inborn errors of metabolism 

L. H. Koens (Groningen, The Netherlands)
14:15-14:30O-002 | Does nitisinone modify ochronosis in alkaptonuria - experience from the United Kingdom National Alkaptonuria Centre 

L. Ranganath (Liverpool, United Kingdom)
14:30-14:45O-006 | Atypical cerebral palsy: yield of genetic diagnostics in the adult metabolic disease clinic 

G. Horvath (Vancouver, Canada)
14:45-15:00O-005 | Longitudinal cohort study of cardiac complications in Fabry disease 

M. Langeveld (Amsterdam, The Netherlands)
15:00-15:15O-007 | Metabolic control modulates neuropsychiatric involvement, brain damage and neurodegenerative markers in adult Phenylketonuria patients 

A. Pilotto (Brescia, Italy)
15:15-15:30O-004 | Are we failing to support the cognitive and mental health of adults with IMDs? Developing neuropsychology services in one Metabolic Centre. 

C. Chen (Salford, United Kingdom)
Van Weelde ZaalParallel Session 4D: Novel disease genes
Chairs: K. Õunap (Tartu, Estonia), S. Andrews (Toronto, Canada)
14:00-14:15O-075 | RINT1 biallelic variants cause a novel disorder of infantile onset recurrent acute liver failure and skeletal anomalies 

M. A. Cousin (Rochester, USA)
14:15-14:30O-071 | Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia 

F. M. Vaz (Amsterdam, The Netherlands)
14:30-14:45O-074 | Possible new peroxisomal disorder associated with IDI1 mutation and identified on global metabolomics study 

H. Alharbi (Los Angeles, USA)
14:45-15:00O-072 | MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy 

M. H. Broeks (Utrecht, The Netherlands)
15:00-15:15O-043 | Identification of mutations in mitochondrial ribosomal protein PTCD3 as a novel cause of Leigh syndrome 

Y. Sugiyama (Chiba, Japan)
15:15-15:30O-053 | Identification of an autosomal dominant Zellweger Spectrum Disorder 

H. R. Waterham (Amsterdam, The Netherlands)
Day 4Friday 6 September 2019

Grote Zaal
Plenary Session 6: Lysosomes-Innovative insights
Chairs: A. van der Ploeg (Rotterdam, The Netherlands), G. Parenti (Naples, Italy)
09.00-09.30Disorders of lysosome-related organelle biogenesis
Marjan Huizing (Bethesda, USA)
9:30-10:00Challenges and concepts to combat diseases caused by deficiencies of lysosomal hydrolases and membrane proteins
Paul Saftig (Kiel, Germany)
10:00-10:30The future of therapies for Lysosomal disorders, lessons from the past
Simon Jones (Manchester, United Kingdom)
10:30-11:00Coffee break

Grote Zaal

Chair: Gajja Salomons
From fatty acid oxidation to riboflavin - Make metabolites great again!
Christine Vianey-Saban (France)

Grote Zaal
Late Breaking News Session
12:00-12:15LBN-1 Mutations in PDXK cause a polyneuropathy that responds to treatment with vitamin B6
Philippa Mills (London, United Kingdom)
12:15-12:30LBN-2 Biallelic truncating SOD1 variants with loss of enzymatic activity: a novel neurometabolic disorder
René Santer (Hamburg, Germany)
12:30-12:45 LBN-3 Treatment with an SGLT2 inhibitor improves neutropenia-related signs and symptoms in four GSD1b patients
Saskia Wortmann (Salzburg, Austria)
12:45-13:00LBN-4 DEGS1-Leukodystrophy, a novel disorder of sphingolipid metabolism impacts mitochondria dynamics
Aurora Pujol (Barcelona, Spain)
13:00-13:30 Awards | Presentation | Closing remarks
13:30-14:30 Closing Lunch