FRIDAY - 09/29/2023

Scientific Conference  |

Science, Policy, and Advocacy | Breakfast and Lunch Symposiums

6:30 am - 8:00 am

Regency Ballroom

Breakfast Buffet

7:45 am

Cabinet/Judiciary

Camp Courage Opens

7:00 am - 7:05 am

Welcome and Introduction, Lisa P. Todd Board Chair

7:00 am - 8:00 am

Regency Ballroom

Breakfast Symposium – Part One | Industry Updates

7:00 am - 7:15 am

Denali Therapeutics, Bill Bakker, Pharm.D., Senior Medical Science
Liaison

7:15 am - 7:30 am

REGENXBIO’s Investigational Gene Therapies for the Treatment of
Mucopolysaccharidoses Types I and II, Laura Pisani, MD

7:30 am - 7:45 am

Sanofi, TBD

7:45 am - 8:00 am

Takeda, Erik Cline, Head of US Marketing, Lysosomal Storage Disease
Franchise

8:10 am - 10:10 am

Regency Ballroom

Session I – MPS and ML II/III, Regulatory and Policy Hurdles on the
Path to Optimal Diagnosis and Treatment

8:00 am – 8:10 am

Visionary Award – Stephanie Bozarth and Steve Holland

Legacy Award, Research – Mark Sands, PhD

President Award, Volunteer – Ekaterina Wright, MD
 

8:10 am - 8:30 am

MPS Therapy, NBS, and The RUSP: An Overview,  Matthew Ellinwood,
PhD, DVM, National MPS Society

8:30 am - 8:50 am

Drug Approval in Rare Disease and the RUSP Bottleneck, Jamie
Sullivan, MPH, Everylife Foundation

8:50 am -  9:10 am

The Journey to Newborn Screening: Pilots, Legislation, RUSP,
and Implementation Amy Gaviglio, MS, CGC, Connetics Consulting, LLC

9:10 am - 9:30 am

From Public Health Screening to Uniform Equity in Care,  Natasha
Bonohomme, Expecting Health

9:30 am - 10:00 am

Round Table Discussion (Speakers and Moderator)

10:00 am - 10:10 am

Question and Response  ( Speakers, Moderator, Audience)

10:10 am - 10:25 am

Heath Break

10:25 am - 12:00 pm

Regency Ballroom

Session II – Keynote Session: The FDA and Rare from the
Stakeholder Perspective

10:30 am - 10:55 am

Challenges in FDA Structure and Practice Confronting the Rare
Disease Community, Annie, Kennedy, EveryLife Foundation

10:55 am - 11:20 am

Drug Development for Rare Diseases Must Catch Up with Scientific
Advances: The role of primary disease biomarkers and accelerated
approval to advance drugs for MPS and other rare disorders
Camille Bedrosian, MD Ultragenyx

11:20 am - 11:45 am

Addressing the Unmet Needs of the Rare Disease Community
Peter Marks, MD. PhD, FDA

11:45 am - 12:00 pm

Question and Response (Panel and Audience)

12:10 pm - 1:00 pm

Regency Ballroom

Lunch Symposium Orthopedic Updates in MPS
Klane White, MD, MS-c, Orthopedic Institute, Children’s Colorado Hosp.

1:00 pm - 2:55 pm

Regency Ballroom

Session III – Progress in Unmet Orthopedic and Connective Tissue

Disease 

1:05 pm - 1:27 pm

Leveraging Naturally Occurring Canine Models to Advance Novel
Treatments for Skeletal Disease in the Mucopolysaccharidoses
Lachlan Smith, PhD, University of Pennsylvania

1:28 pm - 1:50 pm

Growth Failure in MPS Disease, Paul Harmatz, MD, Pediatric
Gastroenterologist, UCSF Benioff Children’s Hospital

1:55 pm - 2:55 pm

Session IV Progress in Modeling Disease

1:55 pm - 2:17 pm

Progress in MPS VI Research with the Canine Model
Magret Casal, DVM, PhD, University of Pennsylvania

2:18 pm - 2: 40 pm

The Feline Model of ML II, Allison Bradbury, PhD, Nationwide
Children’s Hospital

2:40 pm - 2:55 pm

Questions and Response Session III and IV (Panel and Audience)

2:55 pm – 3:15 pm

Health Break

3:15 pm – 4:05 pm

Regency Ballroom

Session V – Therapeutic Innovation: ERT and Gene Therapy
Advancement
 

3:20 pm - 3:35 pm

Prenatal Enzyme Replacement Therapy For MPS and other
Lysosomal Storage Disorders, Emma Canepa, UCSF

3:35 pm - 3:50 pm

Progress in GlcNAc-1-Phosphotransferase Research and
Its Implications on Therapy, Patti Dickson, MD, Washington University
School of Medicine in St. Louis

3:50 pm - 4:05 pm

An AAV Based Clinical Trial for MPS IVA
Shunji Tomatsu, MD, PhD, Nemours Children’s Hospital

4:05 pm – 5:10 pm

Regency Ballroom

Session VI – Therapeutic Innovation: Hybrid BMT

4:10 pm - 4:25 pm

Human Genome-Edited Hematopoietic Stem Cell-Based Therapy
for Mucopolysaccharidosis Type I Natalie Gomez-Ospina, MD, PhD
Stanford Medicine

4:25 pm - 4:40 pm

Ex-vivo Autologous Stem Cell Gene Therapy Clinical Trial for
Mucopolysaccharidosis Type IIIA: Update on phase I/II clinical trial
Simon Jones, MBChB, BSc, MRCPCH, University of Manchester

4:40 pm - 4:55 pm

Gene modified hematopoietic stem cell transplantation for
Mucopolysaccharidosis type IIIC Rafael Badell Grau, PhD, UCSD

4:55 pm - 5:10 pm

Questions and Response Session V and VI (Panel and Audience)

5:10 pm – 5:30 pm

Advocacy, Policy, and Research Recap
Matthew Ellinwood, DVM, PhD, National MPS Society