7:50 am Coffee & Registration

8:50 am Chair’s Opening Remarks

Reviewing the Clinical Landscape for Rare Metabolic Disease Therapeutics: Where Are We Now?

9:00 am MRNA Therapy for Inherited Metabolic Disorders


• mRNA and lipid nanoparticles science and technology
• Preclinical and non-clinical studies in inherited metabolic disorders
• Future and applications of mRNA

9:30 am Development of an Oral, Non-Systemically Acting Medicinal Product for the Treatment of Phenylketonuria (Pku) to Be Used as a Mono-Therapy


• The product is a nano formulation of phenylalanine-binding particles made of a synthetic polymer
• Animal data confirms the potential for the product to be used as a mono-therapy for all types of PKU
• The technology works as a platform for developing medicinal products for other similar rare, metabolic diseases such as Alkaptonuria (AKU) and Hereditary Tyrosinemia type-1 (HT1)

10:00 am Business Development in Rare Disease

10:10 am Speed Networking & Coffee Break


This session is the ideal opportunity to get face-to-face time with many of the brightest minds working in the Antigen Specific Immune Tolerance field and establish meaningful business relationships to pursue for the rest of the conference

11:10 am A Novel Enzyme Therapy For Patients With Homocystinuria


• An overview of homocystinuria pathology, epidemiology, unmet need, and cost burden
• OT-58’s impact on biochemical and clinical parameters in multiple mouse models of homocystinuria Interim data from Orphan
• Technologies ongoing natural history study and an overview of the ongoing U.S. Randomized Placebo Controlled Phase 1/2 clinical study

Delivering Your Therapeutic to the Area of Action

11:40 am Treating PKU by Lentiviral Vector Gene Delivery to Liver

  • David Pauza Chief Scientific Officer, American Gene Technologies


• Exploiting natural tropism of lentivirus vectors
• Permanent genetic modification suitable for infants
• New strategies to improve hepatocyte transduction

12:10 pm Lunch & Networking

1:10 pm Valanafusp-Alpha: The Development Path of a Brain Penetrating Molecular Enzyme Replacement Therapy for the Treatment of Neurological & Somatic Symptoms pf MPS I


• The trojan horse platform of antibody-enzyme fusion proteins to transport therapeutics across the blood-brain-barrier
• Discovery, validation and preclinical development of Valanafusp alpha, aka AGT-181
• Phase II clinical proof of concept of Valanafusp alpha and its effect on pediatric patients with severe untransplanted MPS I
• Regulatory pathway and clinical endpoints discussed with FDA and EMA for a pivotal trial with Valanafusp alpha

1:40 pm A Cell-Penetrating & Degradative Antibody-Enzyme Fusion (AEF) Platform for the Treatment of Lafora Disease & Other Aggregate-Based Genetic Disorders


• The Valerion delivery platform allows intracellular delivery of active proteins and enzymes to the cytoplasmic compartment of systemic muscle and brain tissues
• This platform allows delivery of functional enzymes capable of clearing toxic intracellular polyglucosan or protein aggregates
• Clearance of these aggregates in multiple animal models and in a Phase I/II clinical study in Pompe disease demonstrates novel metabolic and functional efficacy

Clinical Endpoints & Biomarkers: Monitoring Disease & Therapeutic Outcomes

2:10 pm Afternoon Break & Poster Session

3:10 pm Transplantation for MPS I & ALD: Implications of Newborn Screening

  • Paul Orchard Professor Pediatric Blood & Marrow Transplantation, University of Minnesota


• What is the current status of allogeneic transplantation for MPS I and ALD?
• At the time of diagnosis, can we predict phenotypes? Why is this important?
• How does disease status at the time of transplantation influence outcomes?

3:40 pm Panel Discussion: Tackling Ultra-Rare Inborn Errors of Metabolism: Addressing a Huge Unmet Medical Need


This panel discussion will set to map out the future for ultra-rare inherited metabolic therapeutics. Analyze current and future treatment options and explore how a patient-centric approach to drug development can be utilized through collaborations with advocacy groups. This panel will also address the role of industry-academia collaborations to access and augment novel therapeutic
innovations in the field in order to bring new opportunities to ultra-rare metabolic disease patients

4:10 pm Close of Day One