Scientific Program
Tuesday 26th September, 2023
15:00 – 17:30
Registration
17:45 – 18:00
Welcome to NCL2023
18:00 – 18:30
Keynote Lecture 1
Biology and (patho)physiology of lysosomes: Avenues, concepts and therapeutic aspects
Speaker: Paul Saftig – University of Kiel, DE
18:30 – 19:00
Keynote Lecture 2
Lysosomal dysfunction in dementia – a focus on TMEM106B and GRN
Speaker: Markus Damme – University of Kiel, DE
19:00 – 21:00
Evening Reception
Wednesday 27th September, 2023
09:00 – 09:30
Keynote Lecture 3
Loss of the Batten disease protein CLN3 leads to mis-trafficking of CI-M6PR and defective autophagic-lysosomal reformation
Speaker: Alessia Calcagni – Baylor College of Medicine, Houston, USA
09:30 – 12:20
Session Genetics & Biology of the NCLs
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09:30 – 09:35
Introduction by session chairs (Sara Mole, Susan Cotman)
09:35 – 09:55
CLN3 transcript complexity revealed by public long-read RNA sequencing data mining – Haoyu Zhang, University College London, UK
09:55 – 10:15
CLN3 Loss Disrupts Synaptic Homeostasis and Function: Implications for NCL Pathology – Masood Ahmad Wani, University of Mainz, DE
10:15 – 10:35
CLN3 is required for the efflux of lysosomal K+ – Hannah Best, Cardiff University, UK
10:35 – 11:00
Morning Break – Tea and Coffee
11:00 – 11:20
TRPML1 modulates CLN3 disease pathology – Uma Chandrachud, Massachusetts General Hospital / Harvard Medical School, Boston, USA
11:20 – 11:40
The role of palmitoylation in Batten disease – Laura Tejeda, Institut national de la recherche scientifique (INRS), Laval, CAN
11:40 – 12:00
Overview of mutant CLN3 transcripts within a disease context – Christopher Minnis, University College London, UK
12:00 – 12:10
Structural and biochemical characterisation of CLN7 – Tereza Vecerkova, University of Aberdeen, UK
12:10 – 12:20
BDSRA – General announcement about new granting program and US Batten Disease Centers for Excellence – David Pearce, Sanford Health Research, Sioux Falls, USA
12:30 – 13:30
Lunch
13:30 – 15:35
Session Disease Models & Mechanisms Part 1
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13:30 – 13:35
Introduction by session chairs (Jill Weimer, Stephanie Hughes)
13:35 – 13:55
Patient derived 2D and 3D brain and retinal cell culture models revealing pathomechanisms underlying CLN3 Batten disease – Mirta Mittelstedt Leal de Sousa, Norwegian University of Science and Technology, Trondheim, NOR
13:55 – 14:15
Neurometabolic zebrafish model for CLN3-deficiencies – Ursula Heins Marroquin, Luxembourg Centre for Systems Biomedicine (LCSB), Belval, LUX
14:15 – 14:35
ASO corrected CLN3 restores the molecular function of CLN3 – Etienne Sauvageau, INRS (Institut national de la recherche scientifique), Laval, CAN
14:35 – 14:55
Sortilin Inhibition rescues lysosomal dysfunction in in-vitro and in-vivo models of Batten Disease – Jill Weimer, Sanford Health Research, Sioux Falls, USA
14:55 – 15:05
Using Schizosaccharomyces pombe to understand the pathogenesis of CLN3 disease – Jose Angel Clemente-Ramos, Great Ormond Street Institute of Child Health, London, UK
15:05 – 15:15
Characterisation of an ATP13A2-deficient human iPSC-derived neuronal model of CLN12 Batten disease – Stephanie Hughes, University of Otago, NZ
15:15 – 15:25
Neurological, radiological and neuropathological landmarks in CLN1 R151X sheep provide outcome measures for judging therapeutic efficacy – Samantha Eaton, Washington University in St. Louis, USA
15:25 – 15:35
Selective loss of CLN6 in astrocytes or microglia is insufficient for the development of Batten disease – Clarissa Booth, Sanford Health Research, Sioux Falls, USA
15:35 – 16:00
Afternoon Break – Tea and Coffee
16:00 – 17:45
Session Disease Models & Mechanisms Part 2
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16:00 – 16:05
Introduction by session chairs (Tom Wishart, Udo Bartsch)
16:05 – 16:25
Calpain activity is negatively regulated by a KCTD7–Cullin-3 complex via atypical ubiquitination – Jaiprakash Sharma, Washington University in St. Louis, USA
16:25 – 16:45
Zebrafish model of CLN2 disease provides a platform for high-throughput drug screening and identifies a hit compound (RVC1) with therapeutic potential – Claire Russell, Royal Veterinary College, University of London, UK
16:45 – 17:05
Insight CLN5: Approaching therapies in the neuronal ceroid lipofuscinosis, using Zebrafish as a Tool – Maria Marchese, IRCCS Fondazione Stella Maris, Calambrone – Pisa, IT
17:05 – 17:25
Brain-directed AAV gene therapy corrects lethal neurodegeneration and improves locomotor behaviour in a mouse model of CLN5 Batten disease – Wenfei Liu, University College London, UK
17:25 – 17:35
Glial Cells Involvement in the Neuropathology of CLN2 – Miriam Domowicz, University of Chicago, USA
17:35 – 17:45
Mechanisms regulating the trafficking and secretion of CLN5 and CTSD – Robert Huber, Trent University, Peterborough, CAN
18:00 – 19:00
Poster Session 1
19:00
End of conference day
Thursday 28th September, 2023
09:00 – 09:30
Keynote Lecture 4
Title to be determined
Speaker: Monther Abu-Remaileh – Stanford University, USA
09:30 – 12:20
Session Biomarker Discovery and Omics
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09:30 – 09:35
Introduction by session chairs (Stephan Storch, Diego Luis Medina)
09:35 – 09:55
Searching for Small Molecule-based Therapies for ATP13A2 Deficiencies – Ursula Heins Marroquin, Luxembourg Centre for Systems Biomedicine (LCSB), Belval, LUX
09:55 -10:15
Combining cell-based high content imaging with repurposing approaches to tackle BD – Diego Luis Medina, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, IT
10:15 – 10:35
Deep, untargeted biomarker discovery using a CLN3Δex7/8 minipig model of Batten Disease – Mitchell Rechtzigel, Sanford Health Research, Sioux Falls, USA
10:35 – 10:45
Chemical Probes from Phenotypic Screening for CLN3 Drug Discovery – Paul Trippier, University of Nebraska Medical Center, Omaha, USA
10:45 – 10:55
A multimodal biomarker disease score detects early changes and comprehensively tracks disease state in a mouse model of Cln8 disease – Joelle Anderson, Sanford Health Research, Sioux Falls, USA
10:55 – 11:15
Mapping Clinical Progression to Brain Atrophy in CLN2 Disease: A Prospective Neuroimaging Study – Marvin Petersen, University Medical Center Hamburg-Eppendorf, DE
11:15- 11:30
Morning break – Tea and Coffee
11:30 – 12:20
Session Translational Research Preclinical Part 1
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11:30 – 11:35
Introduction by session chairs (Luis Tecedor, Steven Gray)
11:35 – 11:55
Investigating interneuron dysfunction and loss as the basis for epileptogenesis in Cln2R207X mice – Keigo Takahashi, Washington University in St. Louis, USA
11:55 – 12:15
Evolved AAV capsids for gene therapy of CLN2 disease – Luis Tecedor, The Children’s Hospital of Philadelphia, USA
12:15 – 12:25
Gene-Based Therapies for Neuronal Ceroid Lipofuscinosis – Heshadi Primrose Mandalawatta, University of Tasmania, AUS
12:30 – 13:30
Lunch
13:30 – 14:30
Poster Session 2
14:30 – 15:00
Keynote Lecture 5
LYSET – A key protein in the biogenesis of lysosomes
Speaker: Sabrina Jabs – University of Kiel, DE
15:00 – 16:50
Session Translational Research Preclinical Part 1 continued
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15:00 – 15:20
An intravitreal neural stem cell-based enzyme replacement strategy ameliorates the retinal pathology in a mouse model of neuronal ceroid lipofuscinosis type 1 – Udo Bartsch, University Medical Center Hamburg-Eppendorf, DE
15:20 – 15:40
Brain derived neurotrophic factor (BDNF) rescues retinal bipolar cells in CLN1 mouse model – Yevgeniya Atiskova, University Medical Center Hamburg-Eppendorf, DE
15:40 – 16:00
Afternoon Break – Tea and Coffee
16:00 – 16:10
Development of NtBuHA as a Small Molecule Therapeutic for CLN1 Batten Disease: An Update on Research Efforts – Rachel Johansson, Circumvent Pharmaceuticals, Portland, USA
16:10 – 16:20
AAV-mediated PPT1 replacement and cross correction for treating CLN1 Batten Disease – Md Suhail Alam, Spark Therapeutics, Philadelphia, USA
16:20 – 16:30
Previously uncharacterized brainstem pathology in CLN1 disease mice can be treated by enzyme replacement – Hemanth Nelvagal, Washington University in St. Louis, USA
16:30 – 16:40
Identifying and treating the impact of CLN1 disease upon the peripheral nervous system – Ewa Ziółkowska, Washington University in St Louis, USA
16:40 – 16:50
CLN1 and CLN2 disease mice have enteric disease that is effectively treated by gene therapy – Jonathan Cooper, Washington University in St. Louis, USA
17:00 – 17:30
Conference Picture
17:30 – 20:30
Boat trip on river Elbe
20:30
End of conference day
Friday 29th September, 2023
09:00 – 10:35
Session Translational Research Preclinical Part 2
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09:00 – 09:05
Introduction by session chairs (Rebecka Ahrens-Nicklas, Filippo Santorelli)
09:05 – 09:25
Antisense oligonucleotides to treat vision loss in a porcine model of CLN3 Batten disease – Matthew Stratton, Rosalind Franklin University of Medicine and Science, North Chicago, USA
09:25 – 09:45
Identifying and treating the effects of Cln3 disease outside the central nervous system – Ewa Ziółkowska, Washington University in St. Louis, USA
09:45 – 10:05
Glycosphingolipid reduction with miglustat as a therapeutic strategy for neuronal ceroid lipofuscinoses – Emyr Lloyd-Evans, Cardiff University, UK
10:05 – 10:25
Dose Escalation of CLN5 Gene Therapy Administered by Intracerebroventricular and Intravitreal Injection in CLN5-/- Sheep – Nadia Mitchell, Lincoln University, NZ
10:25 – 10:35
Effects of trehalose in a mouse model for CLN7 disease – Stephan Storch, University Medical Center Hamburg-Eppendorf, DE
10:35- 11:00
Morning break – Tea and Coffee
11:00 – 12:45
Session Translational Research Clinical Part 1
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11:00 – 11:05
Introduction by session chairs (An Dang Do, Alessandro Simonati)
11:05 – 11:25
Preliminary safety data of a phase 1 first in human clinical trial support the use of high dose intrathecal AAV9/CLN7 for the treatment of patients with CLN7 disease – Saima Kayani, University of Texas Southwestern Medical Center, Dallas, USA
11:25 – 11:45
Brain Proton MR Spectroscopy Measurements in CLN3 Disease – An Dang Do, National Institutes of Health (NIH), Bethesda, USA
11:45 – 11:55
The Unified Batten Disease Rating Scale – meaningful differences in CLN3 disease – Erika F. Augustine, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, USA
11:55 – 12:05
Fatigue and Pain in CLN3 Disease – underexplored elements of natural history – Erika F. Augustine, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, USA
12:05 – 12:15
The autonomic activity in JNCL (CLN3 disease) during episodes resembling Paroxysmal Sympathetic Hyperactivity – Caroline Baekmann Jeppesen, Aarhus University Hospital, DK
12:15 – 12:25
An Open-label Safety Study of Batten-1 (miglustat) for the Treatment of CLN3 Disease: Preliminary safety and Pharmacokinetic (PK) results – Gary Clark, Baylor College of Medicine, Houston, USA
12:25 – 12:35
Influence of fingolimod treatment on disease outcome and MRI brain volumes in children with CLN3 – Guido Goj, Vestische Children’s Hospital, Datteln, DE
12:35 – 12:45
Fingolimod use in Neuronal Ceroid Lipofuscinosis type 1 patient leads to reduction in blood Neurofilament light chain (NFL) levels – Martina Messina, Great Ormond Street Children’s Hospital, London UK
12:45 – 13:45
Lunch
13:45 – 14:45
Poster Session 3
14:45 – 16:50
Session Translational Research Clinical Part 2
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14:45 – 14:50
Introduction by session chairs (Paul Gissen, Erika Augustine)
14:50 – 15:10
Intravitreal Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2): 18 month Interim Safety Report – Catherine Jordan, Nationwide Children’s Hospital, Columbus, USA
15:10 – 15:30
RGX-381 Investigational AAV9 Gene Therapy First-in-Human Trial for the Treatment of Ocular Manifestations of CLN2 Batten Disease – Christina Ohnsman, REGENXBIO, Rockville, USA
15:30 – 15:50
First in-human intracisternal dosing of RGX-181 (adeno-associated virus 9 / human tripeptidyl peptidase 1) for a 5-year-old child with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): 6 month follow-up – Carolina Fischinger Moura de Souza, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, BRA
15:50 – 16:00
Longitudinal Motor Development on the Expanded Neuronal Ceroid Lipofuscinosis 2 (CLN2) Clinical Rating Scale for Motor and Function – Dawn Phillips, REGENXBIO, Rockville, USA
16:00 – 16:10
Deep brain stimulation (DBS) in a CLN2 patient with status dystonicus – a case report – Eva Wibbeler, University Medical Center Hamburg-Eppendorf, DE
16:10 – 16:30
Afternoon Break – Tea and Coffee
16:30 – 16:50
Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children <3 years old – Angela Schulz, University Medical Center Hamburg-Eppendorf, DE
16:50 – 17:10
Real-world clinical outcomes in children with CLN2 disease treated with cerliponase alfa – Miriam Nickel, University Medical Center Hamburg-Eppendorf, DE
17:10 – 17:30
CLN2 newborn screening: Preparation of a pilot study in Germany – Christian Posern, University Medical Center Hamburg-Eppendorf, DE
17:30 – 17:40
Volumetric description of brain atrophy in enzyme replacement therapy for patients with Neuronal Ceroid Lipofuscinosis 2: Supratentorial grey matter shows a slowed rate of decline compared to the natural history cohort – Pritika Gaur, Great Ormond Street Children’s Hospital, London, UK
17:40 – 17:50
Analysis of occurrence and treatment of device related adverse events under longterm ICV-ERT in CLN2 patients – Christoph Schwering, University Medical Center Hamburg-Eppendorf, DE
17:50 – 18:00
Case study: Comparison of CLN2 disease course in two sisters with start of Cerliponase alfa treatment at pre-symptomatic versus symptomatic age – Tita-Antonia Hagen, University Medical Center Hamburg-Eppendorf, DE
18:15- 22:00
Oktoberfest Get-together
22:00
End of conference day
Saturday 30th September, 2023
09:00 – 10:30
Lay Summaries of Key Highlights
10:30- 11:00
Morning break – Tea and Coffee
11:00 – 12:45
Session Late Breaking Abstracts
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11:00 – 11:05
Introduction by session chairs (Jonathan Cooper, Angela Schulz)
11:05 – 11:25
The Batten disease glycerophosphodiester storage inhibits phospholipid catabolism in the lysosome – Kwamina Nyame, Stanford University, USA
11:25 – 11:45
Mapping the molecular and functional alterations in CLN3 disease microglia – Susan Cotman Massachusetts General Hospital / Harvard Medical School, Boston, USA
11:45 – 12:05
Cellular and Molecular Basis of Vision loss in CLN3 disease – Ruchira Singh University of Rochester, USA
12:05 – 12:25
An individualized splice-switching antisense oligonucleotide for a rare CLN3 mutation – Jessica Centa, University of Michigan Medical School, Ann Arbor, USA
12:25 – 12:35
Development of a novel two-step assay for detection and quantification of drug specific antibodies against Cerliponase alfa in serum samples of CLN2 patients – Lena Marie Westermann, University Medical Center Hamburg-Eppendorf, DE
12:45 – 13:45
Lunch and Market Place Event
13:45 – 14:00
Closing Remarks and Awards
14:00
End of Conference
