Friday, 31st October International Congress on Neuronal Ceroid Lipofuscinoses 2025

• Analysis of longitudinal natural history data in infantile CLN1 patients from two independent international cohorts using the Hamburg iCRS scale - Miriam Nickel
• Clinical Symptoms in Late Infantile and Juvenile Onset CLN7 Disease - Jennifer Vermilion
• Gastrointestinal Involvement in Neuronal Ceroid Lipofuscinoses: A Pilot Study on Symptom Burden and Quality of Life in a Pediatric Cohort - Stefania Della Vecchia
• Genotype-Phenotype Relationships in CLN3 Disease: Insights from a Natural History Study - Jennifer Vermilion

All Speakers from the session will take part in the Q&A panel

• A Timeline of Symptom Onset and Disease Progression in CLN3 Disease - Ineka T Whiteman
• Impact of CLN3 Disease on Child Quality of Life and Family Function - Jennifer Vermilion
• Initiation of cerliponase alpha at 4-months as pre-symptomatic treatment of CLN2 Batten Disease - Andrea Miele
• Impact of Treatment with Cerliponase Alfa on CLN2 Associated Symptoms - Evidence from the Families and Educational Professionals in the United Kingdom - Joanna Nightingale
• Parent-reported symptom outcomes following treatment with Cerliponase alfa (Brineura) for CLN2 disease - Heather Adams

All Speakers from the session will take part in the Q&A panel

• Cognition in CLN3 Disease in Relation to Disease Stage - Heather R Adams
• TPP1 deficient cynomolgus macaque monkeys display neuropathological changes that resemble human CLN2 disease - Jonathan D Cooper
• Characterisation of Batten disease blood-brain barrier dysfunction and investigating new therapeutic approaches - Destiny K Aranovitch
• The NCL Database at UCL: Overall update and focus on CLN7 - Emily Gardner
• Same-Day Approach for Combined Intravitreal and Intracerebroventricular Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children with Neuronal Ceroid Lipofuscinosis Type 2 - Catherine O Jordan
• Nizubaglustat, a novel small molecule therapeutic in development for NPC, GM1 and GM2 gangliosidoses with potential to treat other rare neurodegenerative diseases - Kyle Landskroner
• Analyses of NfL and GFAP as potential biomarkers across different NCL forms - Lara Yasmin Ruhberg
• A user-friendly web interface to investigate transcription complexity of any gene of interest: A case study of all NCL genes - Haoyu Zhang
• Assessment of motor and neuropathological parameters following N-Acetyl-Leucine administration in CLN1 mice - Ewa A Ziółkowska
• Decoding Transcript Diversity in CLN1 Batten Disease: A Personalised iPSC-Based Therapeutic Strategy - Sakshi Mathur
• Comparison of candidate repurposed drugs and nutritional supplements using a zebrafish model of CLN3 disease - Claire Russell

• Developmental and Epileptic Encephalopathies – and their relevance to Batten disease. - Ingrid Scheffer

PANEL MEMBERS

Sara Mole
Erika Augustine
Ineka Whiteman
Karen Kahn
Kasparas Petkevicius
Jon Cooper

• Splice-Switching Antisense Oligonucleotide Drug Discovery and Development for CLN3 Batten Disease   - Michelle Hastings

Stephanie Hughes

• The Lynchpin of Progress: The Role of Patient Advocates in Driving Rare Disease Research, Development and Access    - Ineka T Whiteman
• Improved developmental outcomes with early initiation of cerliponase alfa treatment in children with CLN2 disease - Angela Schulz
• Real-world pre-symptomatic treatment in CLN2 disease: Learnings from families with multiple affected children - Lena Marie Westermann
• Intravitreal Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2):  Interim 3-Year Safety and Efficacy Outcomes - Catherine O. Jordan
• Two year results of first-in-human intracisternal TTX-181 investigational AAV9 gene therapy in a child with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) - Christina Ohnsman
• One-year results from the first-in-human clinical trial of TTX-381, an investigational gene therapy for the treatment of ocular manifestations of CLN2 Batten disease - Christina Ohnsman
• Outcomes of miglustat use in five children with CLN3 disease - Alexandra M Johnson
• AAV9 Gene Replacement Therapy for CLN3 Batten Disease Suggests Significant Slowing of Disease Progression and Maintenance of Speech, Cognitive and Motor Function at up to 5 Years Post Treatment - Emily de los Reyes

All Speakers from the session will take part in the Q&A panel

Please join us for a group photo for NCL2025

Dinner will be at the Novotel Lagoon Beach
Pre-registration for the dinner is essential