Inborn errors of (synaptic) neurotransmission

 APS Annual conference
Wednesday 22.9.2021
08:30 - 13:00APS Stoffwechselseminar
Gesellschaftssaal
14:00 - 16:00Junge Stoffwechsel-Medizin
Gesellschaftssaal
16:00 - 17:30Satellite Symposium - supported by Vitaflo Deutschland GmbH
Festsaal
Long‑term experience with triheptanoin in 12 Austrian patients with long‑chain fatty acid oxidation disorders
D. Karall, M. Jörg-Streller, Innsbruck
17:45 - 19:15Satellite Symposium - supported by PTC Therapeutics
Festsaal
Innovating in rare neurometabolic disorders: A focus on AADC deficiency
Chair: H. Brennenstuhl, Heidelberg
17:45-17:50Welcome, introductions and objectives
H. Brennenstuhl, Heidelberg
17:50-18:05Introducing AADC deficiency, a rare neurometabolic disorder
B. Ben-Zeev, Tel Aviv
18:05-18:25Real-life case studies: Helping earlier identification and diagnosis of patients with AADC deficiency in clinical practice
A. Roubertie, Montpellier
18:25-18:50An overview of innovative gene therapy treatments in development for patients with AADC deficiency
P. Hwu, Taipei
18:50-19:10Panel discussion with live questions from attendees, moderated by the Chair
19:10-19:15Summary with key takeaways and close of the symposium
H. Brennenstuhl, Heidelberg
in parallel with
17:45 - 19:15Satellite Symposium - supported by Recordati Rare Diseases
Gesellschaftssaal
Long-Term Management Optimisation of patients with propionic and methylmalonic acidurias
Chair: S. Yap, Sheffield
17:45-17:50Welcome
J. Krings, Recordati Rare Diseases Germany
17:50-17:55Introduction Chair
S. Yap, Sheffield
17:55-18:30Three-year follow-up of patients with propionic and methylmalonic acidurias
Long-term Carbaglu® treatment vs Liver transplant
S. Matsumoto, Kumamoto
18:30-19:05PROTECT trial - Overview and interim data
Clinical experience with long-term treatment of patients with propionic and methylmalonic acidurias
S. Yap, Sheffield
19:05-19:10Discussion
19:10-19:15Summary & wrap up
S. Yap, Sheffield
from 19:30Get together with poster walk
Haupthalle/ Blauer Saal
 APS Annual conference
Thursday 23.9.2021, Festsaal
08:30Welcome & Introduction
T. Opladen, Heidelberg
08:30 - 10:00Mechanisms of synaptic function and dysfunction
Chair: Diana Ballhausen, Lausanne - Natalie Weinhold, Berlin
08:30Synapse function in the human central nervous system
F. Lopez Murcia, Göttingen
09:00Synaptic metabolism: a new approach to inborn errors of neurotransmission
A. Garcia-Cazorla, Barcelona
09:30Clinical presentation and disease mechanisms in genetic postsynaptic movement disorders
L. Abela, London
10:00Movement disorders in children and adults with treatable inborn errors of metabolism
D. Ebrahimi-Fakhari, Boston
10:30 - 11:00Coffeebreak | Posters | Industrial Exhibition
11:00 - 12:30Synaptic dysfunction in IEM
Chair: Sabine Scholl-Bürgi, Innsbruck - Galina Stevanovic´, Belgrade
11:00Tetrahydrobiopterin (BH4) disorders: Pathophysiological consideration, clinical phenotype and treatment response
T. Opladen, Heidelberg
11:30Pathophysiological involvement of neurotransmitters in monogenetic pediatric epilepsies
S. Syrbe, Heidelberg
12:00Glycine encephalopathy
J. van Hove, Denver
12:30 - 13:30Lunchbreak | Posters | Industrial Exhibition
13:30 - 14:30Novel pathophysiological concepts in synaptic neurotransmission
Chair: Beat Thöny, Zurich - Esther Maier, Munich
13:30Induced pluripotent stem cells (IPSC) modelling of movement disorders
S. Jung-Klawitter, Heidelberg
14:00Next generation sequencing, bioinformatic analyses and data integration in neurometabolic disorders
D. Hübschmann, Heidelberg
14:30 - 15:30Free communications I
Chair: Sarah Grünert, Freiburg - Julia Hennermann, Mainz
14:30
FC01-01
Novel insights expanding the phenotypic spectrum of inherited disorders of biogenic amines
O. Kuseyri Hübschmann, Heidelberg
14:40
FC01-02
Intraventricular cerliponase alfa as standard of care in CLN2 disease: 4-year update from an independent ongoing observational study
A. Schulz, Hamburg
14:50
FC01-03
Cognitive long-term outcome of early diagnosed individuals with glutaric aciduria type 1 – a national prospective study over 20 years
E. Maertner, Heidelberg
15:00
FC01-04
Lentiviral Haematopoietic Stem and Progenitor Cell Gene Therapy for Metachromatic Leukodystrophy (MLD): Clinical Outcomes from 38 Patients
F. Fumagalli, Milan
15:10
FC01-05
Evaluation of the family burden of parents of children with urea cycle defects
M. Scharping, Heidelberg
15:20
FC01-06
The impact of disease severity on the psychological well-being of youth affected by an inborn error of metabolism and their families: A one-year longitudinal study
D. Ballhausen, Lausanne
End of the scientific programme of the 1st day
15:30 - 16:00Coffeebreak | Posters| Industrial Exhibition
16:00 - 17:30APS members‘ meeting
Festsaal
18:00 - 19:30Networking Event (TBC)

from 20:00APS Dinner
Kolonnadensaal
 APS Annual conference
Friday 24.9.2021, Festsaal
08:30 - 10:00Free Communications II
Chair: Chris Mühlhausen, Göttingen - Luciana Hannibal, Freiburg
08:30
FC02-01
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
P. Forny, Zurich
08:40
FC02-02
A spoonful of L-fucose - An efficient therapy for GFUS-CDG, a new glycosylation disorder
S. Wortmann, Salzburg
08:50
FC02-03
HPDL-associated neurological disease - current knowledge and further evidence for a
mitochondrial disease-like phenotype
R. Husain, Jena
09:00
FC02-04
Effect of ketogenic diet treatment on cellular lipids in murine hippocampal neurons
P. Dabke, Hannover
09:10
FC02-05
Long-term Outcomes of Individuals with Metabolic Diseases Identified Through Newborn Screening
U. Mütze, Heidelberg
09:20
FC02-06
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
L. Henze, Heidelberg
09:30
FC02-07
Molecular and cellular analysis of intestinal lactase-phlorizin hydrolase gene variants
L. Marten, Göttingen
09:40
FC02-08
Endothelial Colony Forming Cells as a primary cell model of Fabry disease
S. Tokic, Graz
09:50
FC02-09
Impact of Fabry disease on mitochondrial homeostasis in renal epithelial cells
A. Schumann, Freiburg
10:00 - 10:30Coffeebreak | Posters | Industrial Exhibition
10:30 - 12:00Modern diagnostic and treatment strategies
Chair: Georg F. Hoffmann, Heidelberg - Thomas Lücke, Bochum
10:30Next generation metabolic screening in CSF in neurometabolic disorders
K. Coene, Nijmegen
11:00Pharmacological and enzyme-replacement therapeutic
strategies for SSADH deficiency
H. Lee, Boston
11:30Gene therapy for AADC deficiency
T. Pearson, St. Louis
12.00Awards – Closing remarks – Invitation for 2022
Individual departure