Platform Session 1: Clinical and Biochemical Genetics and Therapeutics
20 Mar 2025
Venue:
Los Angeles Convention Centre
Meeting Room:
Petree Hall C
Biochemical/Metabolic and Therapeutics
,
Clinical Genetics and Therapeutics
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Accredited:
- Accredited
Platform presentations are abstract submissions chosen by the abstract review committee to orally present their research. It is a 13-minute presentation followed by a 2-minute Q&A.
O01 - Efficacy and Safety Outcomes of JNT-517, A First-in-Class SLC6A19 Inhibitor, in Adults with Phenylketonuria: A Randomized Study
O03 - Hydroxocobalamin (OHCbl) Dose Intensification can Prevent Visual Deterioration and Improve Neurological and Biochemical Outcomes in CBLC Deficiency
O16 - Preclinical Development of a Gene Therapy for Ogden Syndrome, Using New Mouse Models of the Disease
O19 - Antisense Oligonucleotides Targeting Linked-SNPs Provide Allele-Specific Knockdown of a Dominant-Negative SPTAN1 Pathogenic Pariant in a Complex Genetic Region
O33 - Impact of p.Arg610del Neuroprotective Genotype on Disease Burden and Treatment Response in Adults with Acid-sphingomyelinase Deficiency: ASCEND Olipudase Alfa Trial
O36 - Lentiviral Gene Therapy for Fabry Disease in the Canadian FACTS Trial: 5-year end of Study Results
O01 - Efficacy and Safety Outcomes of JNT-517, A First-in-Class SLC6A19 Inhibitor, in Adults with Phenylketonuria: A Randomized Study
O03 - Hydroxocobalamin (OHCbl) Dose Intensification can Prevent Visual Deterioration and Improve Neurological and Biochemical Outcomes in CBLC Deficiency
O16 - Preclinical Development of a Gene Therapy for Ogden Syndrome, Using New Mouse Models of the Disease
O19 - Antisense Oligonucleotides Targeting Linked-SNPs Provide Allele-Specific Knockdown of a Dominant-Negative SPTAN1 Pathogenic Pariant in a Complex Genetic Region
O33 - Impact of p.Arg610del Neuroprotective Genotype on Disease Burden and Treatment Response in Adults with Acid-sphingomyelinase Deficiency: ASCEND Olipudase Alfa Trial
O36 - Lentiviral Gene Therapy for Fabry Disease in the Canadian FACTS Trial: 5-year end of Study Results
Agenda
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1:30 PM – 3:00 PM -
Efficacy and Safety Outcomes of JNT-517, A First-in-Class SLC6A19 Inhibitor, in Adults with Phenylketonuria: A Randomized Study1:30 PM – 1:45 PM -
Hydroxocobalamin (OHCbl) Dose Intensification can prevent Visual Deterioration and Improve Neurological and Biochemical Outcomes in CBLC Deficiency1:45 PM – 2:00 PM -
Preclinical Development of a Gene Therapy for Ogden Syndrome, Using New Mouse Models of the Disease2:00 PM – 2:15 PM -
Antisense Oligonucleotides Targeting Linked-SNPs Provide Allele-specific Knockdown of a Dominant-negative SPTAN1 Pathogenic Variant in a Complex Genetic Region2:15 PM – 2:30 PM -
Impact of p.Arg610del Neuroprotective Genotype on Disease Burden and Treatment Response in Adults with Acid-sphingomyelinase Deficiency: ASCEND Olipudase Alfa Trial2:30 PM – 2:45 PM -
Lentiviral Gene Therapy for Fabry Disease in the Canadian FACTS Trial: 5-year end of Study Results2:45 PM – 3:00 PM -
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