WORLDSymposium 2021
February 8-12 basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest discoveries related to lysosomal diseases and the clinical investigation of these advances gathered virtually for the 17th Annual WORLDSymposium.
BDSRA took this opportunity to educate the community about the Batten patient experience, connect with researchers and share ideas with other patient advocacy organizations.
During the conference there were two presentations focused on Batten disease and many posters, you can read their titles below.
Presentations:
Preclinical results in rodents strongly support clinical evaluation of scAAV9/MFSD8 as a potential gene therapy for CLN7 patients
Xin Chen1, Frances Shaffo1, Thomas Dong1, Yuhui Hu1, Nandkishore R. Belur2, Joseph R. Mazzulli2, Steven J. Gray1.
1UTSW Medical Center, Dallas, TX, USA, 2Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Single-dose AAV9-CLN6 gene transfer slows the decline in motor and language function in variant late infantile neuronal ceroid lipofuscinosis 6: Interim results from phase 1/2 trial
Emily de los Reyes1, Shawn Aylward1, Kathrin Meyer2, Lenora Lehwald3, Charles Albright1, David L. Rogers1, Jeff Castelli4, Hai Jiang4, Mitchell Goldman4, Vipul Jain4, Alberto di Ronza4, Jay A. Barth4.
1Nationwide Children’s Hospital, Columbus, OH, USA, 2Nationwide Children’s Hospital, and Department of Pediatrics, Ohio State University, Columbus, OH, USA, 3Peyton Manning Children’s Hospital and Indiana University School of Medicine, Evansville, IN, USA, 4Amicus Therapeutics, Inc., Cranbury, NJ, USA.
Posters:
Single-dose AAV9-CLN6 gene transfer slows the decline in motor and language function in variant late infantile neuronal ceroid lipofuscinosis 6: Interim results from phase 1/2 trial
Emily de los Reyes1, Shawn Aylward1, Kathrin Meyer2, Lenora Lehwald3, Charles Albright1, David L. Rogers1, Jeff Castelli4, Hai Jiang4, Mitchell Goldman4, Vipul Jain4, Alberto di Ronza4, Jay A. Barth4.
1Nationwide Children’s Hospital, Columbus, OH, USA, 2Nationwide Children’s Hospital, and Department of Pediatrics, Ohio State University, Columbus, OH, USA, 3Peyton Manning Children’s Hospital and Indiana University School of Medicine, Evansville, IN, USA, 4Amicus Therapeutics, Inc., Cranbury, NJ, USA.
Epidemiology and access to expert care for the neuronal ceroid lipofuscinoses (NCLs)
Margaux C. Masten, Edwin van Wijngaarden, Erika F. Augustine, Jonathan W. Mink.
University of Rochester, Rochester, NY, USA.
Genotype-phenotype associations in CLN3 disease
Margaux C. Masten, Amy Vierhile, Jennifer Vermilion, Heather R. Adams, Erika F. Augustine, Jonathan W. Mink.
University of Rochester, Rochester, NY, USA.
Diagnostic confidence for CLN3 disease
Margaux C. Masten, Amy Vierhile, Jennifer Vermilion, Heather Adams, Grace A. Zimmerman, Camille Corre, Jonathan W. Mink, Erika F. Augustine.
University of Rochester, Rochester, NY, USA.
Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: Results from 4246 tests
Tiffany Pang1, Fernanda Leal-Pardinas1, Rebecca Truty2, Dianalee A. McKnight2, Britt Johnson2, Ana Morales2, Sara L. Bristow2, Emanuela Izzo1, Jessica Cohen-Pfeffer1, Raman Sankar3, Sookyong Koh4, Elaine C. Wirrell5, John J. Millichap6, Swaroop Aradhya2.
1BioMarin Pharmaceutical Inc., Novato, CA, USA, 2Invitae, San Francisco, CA, USA, 3David Geffen School of Medicine at UCLA, Los Angeles, CA, USA, 4Emory University School of Medicine, Atlanta, GA, USA, 5Mayo Clinc, Rochester, MN, USA, 6Ann and Robert H. Lurie Children’s Hospital, Chicago, IL, USA.
Characterizing expressive language skills in children with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): The caregiver perspective
Dawn Phillips, Vivian Fernandez, Marie-Laure Nevoret.
Medical Org, REGENXBIO, Rockville, MD, USA.
Characterizing visual function in children with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): The caregiver perspective
Dawn Phillips, Vivian Fernandez, Christina Ohnsman.
Medical Org, REGENXBIO, Rockville, MD, USA.
Human induced pluripotent stem cell models for CLN6
Tyler M. Pierson1, Yogesh K. Kushwaha1, Maria G. Otero1, Phillip J. Kenny1, Fabian D. Nonis1, Jaemin Kim2.
1Neurology and Pediatrics and Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA, 2Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Repurposing drugs for CLN1 Batten disease: An integrative drug discovery approach
Ana C. Puhl1, Patricia A. Vignaux1, Eni Minerali1, Jennifer J. Klein1, Tammy M. Havener2, Edward Anderson2, Anthony J. Hickey2, Sean Ekins1.
1Collaborations Pharmaceuticals, Inc., Raleigh, NC, USA, 2UNC Catalyst for Rare Diseases, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, NC, USA.
Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children younger than three years: Interim results from an ongoing clinical study
Angela Schulz1, Emily de los Reyes2, Nicola Specchio3, Paul Gissen4, Peter Slasor5, Shailesh Bondade5, David Jacoby5.
1Children’s Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany, 2Nationwide Children’s Hospital, The Ohio State University, Columbus, OH, USA, 3Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy, 4Great Ormond Street Hospital, London, United Kingdom, 5BioMarin Pharmaceutical Inc, Novato, CA, USA.
An open-label, phase 1/2a, AAV9-CLN3 gene transfer clinical trial for juvenile neuronal ceroid lipofuscinosis
Emily de los Reyes1, Shawn Aylward1, Monica Islam1, Kathrin Meyer1, Ernie Stefanelli2, Hai Jiang2, Jill Weimer3, Mitchell Goldman2.
1Nationwide Children’s Hospital, Columbus, OH, USA, 2Amicus Therapeutics, Inc., Cranbury, NJ, USA, 3Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States; Amicus Therapeutics, Inc., Cranbury, NJ, USA.
Differential impairment of CLN6’s anti-aggregate activity as a pathogenic mechanism of CLN6 disease
Yuki Shiro1, Tetsuo Yamazaki2.
1Pharmaceutical sciences, Tokushima university, Tokushima, Japan, 2Biomedical Sciences, Tokushima university, Tokushima, Japan.
Comparing developmental outcomes of children with CLN2 disease receiving cerliponase alfa to a natural history cohort
Jessica Scherr1, Elizabeth Berry-Kravis2, Emily de los Reyes3.
1Behavioral Health- Psychology, Nationwide Children’s Hospital, Columbus, OH, USA, 2Rush University Medical Center, Chicago, IL, USA, 3Nationwide Children’s Hospital, Columbus, OH, USA.
Subretinal injection of RGX-381 to cynomolgus monkeys leads to supraphysiological levels of TPP1 in the eye
Nicholas Buss1, Ewa Budzynski1, Lin Yang2, SunJung Kim1, Kwi Hye Kim3, Mikayla Higgins2, Louis Gardner2, Michele Fiscella2, Timothy A. Poole4, Sophie H. Wang4, Hemanth R. Nelvagal4, Jonathan D. Cooper4, Olivier Danos3.
1Preclinical Development, REGENXBIO Inc., Rockville, MD, USA, 2Preclinical Development and Bioanalytical Sciences, REGENXBIO Inc., Rockville, MD, USA, 3REGENXBIO Inc., Rockville, MD, USA, 4Genetics and Neurology, Washington University School of Medicine, St Louis, MO, USA.
Devising effective enzyme replacement therapy for infantile onset neuronal ceroid lipofuscinosis (CLN1 disease)
Jonathan D. Cooper1, Ana C. Puhl2, Sophie H. Wang1, Elizabeth M. Eultgen1, Keigo Takahashi1, Steven Q. Le1, Hemanth R. Nelvagal1, Sean Ekins2.
1Pediatrics, Washington University in St. Louis, St. Louis, MO, USA, 2Collaborations Pharmaceuticals, Raleigh, NC, USA.
