Present and former LDN Members will present a series of studies and insights relating to lysosomal diseases at the 16th annual WORLDSymposium to be held from February 10-13, 2020 in Orlando, Florida. WORLDSymposium is designed to help researchers and clinicians to better manage and understand diagnostic options for patients with lysosomal diseases, identify areas requiring additional basic and clinical research, public policy and regulatory attention, and identify the latest findings in the natural history of lysosomal diseases.
- Behzad Najafian, LDN Project PI (2:30 pm Monday) to present “Podocyte globotriaosylceramide (GL-3) content in female adult patients with Fabry disease and amenable mutations reduces following 6 months of treatment with migalastat”
- Sarah Kim, LDN Fellow, (4:00 pm Monday) to present “Quantification of cerebrospinal fluid chitotriosidase in a clinical laboratory is validated for use in diagnosis and clinical trials”
- LI Ou, LDN Fellow (1:15 pm Tuesday) to present “Liver-targeting gene editing achieves significant neurological benefits in MPS I mice”
- Paul J.Orchard, LDN Project Co-PI (2:25 pm Tuesday) to present “High dose hematopoietic stem cell transplantation leads to rapid hematopoietic and microglial recovery and disease correction in a mouse model of Hurler syndrome”
- Ankit Desi, LDN Fellow and Project Co-PI (3:45 pm Tuesday) to present “Benefits of prophylactic short-course immunomodulation in patients with infantile Pompe disease: Demonstration of long-term safety and efficacy in a large cohort”
- Raymond Wang, former LDN Project PI (3:30 pm Wednesday) to present “Long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis type VII”
- Marc Patterson, former LDN Project PI, LDN Education Core Director (4:15 pm Wednesday) to present “Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo-controlled trial with a novel treatment”
- Raffi Schiffmann, LDN Project PI (9:15 am Thursday) to present “Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3”
- Stephanie Austin, LDN Project Co-PI (10:45 am Thursday) to present “Extended treatment with VAL-1221, a novel protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease”
- Paul Harmatz, LDN Project site PI (11:00 am Thursday) to present “A new randomized placebo controlled study to establish the safety and efficacy of velmanase alfa (human recombinant alpha-mannosidase) enzyme replacement therapy for the treatment of alpha-mannosidosis”