Edith, a Canadian MPS Society member, will be doing a reading of her book Filipou and the Giant Apple, a story inspired by her son having Hunter Syndrome. This will be followed by an art project creating “Power Apples”.

Families will be scheduled to meet the photographer for family photo shoots.

Our 2023 National Family Conference group photo at 8:30am sharp.  Please don’t be late!

In this session we will review the available clinical treatment options for patients diagnosed with MPSs and the currently avilable clinical trial programs. We will review the screening process for eligibility to participate in clinical trials, and what to expect when participating in clinical trials.

Part 1 

A description of the anesthetic challenges posed by patients with MPS with particular reference to airway management. 

Part 2 

How advances in anesthetic management have improved the safety of anesthesia for patients with MPS. 

Part 3 

How the evolution of treatments for patients with MPS has presented new challenges for anesthesiologists.

Pranesh Chakraborty – Newborn screening considerations for LSDs (20 minutes)

Billie Lianoglou – Prenatal diagnosis and current and emerging fetal therapies including in utero enzyme replacement therapy (25 minutes)

 

The aim of this plenary session is to provide an update regarding the considerations for timely diagnosis and therapy of patients LSDs. 

 

This session will first examine considerations related to newborn screening for LSDs. We will review updates regarding fetal diagnosis including sonographic findings, challenges related to fetal sequencing, and the impact of carrier screening. An overview of the ongoing phase 1 clinical trial of in utero ERT for patients with LSDs will be provided, as well as other potential prenatal therapies. 

Billie Lianoglou – Prenatal diagnosis and current and emerging fetal therapies including in utero enzyme replacement therapy (25 minutes)

15 minutes for Q&A

The session will provide an overview regarding the reproductive planning and testing options available for mucopolysaccharidosis. This includes both pre-conception considerations and options available for prenatal diagnosis. 

On March 22, 2023, the Canadian government announced “the first-ever National Strategy for Drugs for Rare Diseases, with an investment of up to $1.5 billion over three years. Following three years of multi-stakeholder consultations, the Canadian Organization for Rare Disorders (CORD) is proposing the establishment of a Canadian Rare Disease Framework which includes three pillars: Canadian Network of Rare Disease Centres of Expertise, Designated Pathway for Rare Disease Therapies, and Rare Disease Research Network. These are supported by two core platforms: Patient Data Platform and Patient Engagement Platform.

We will review the most up to date research on neuropsychological development and mental health and behavior from the last five years, and implications for families and caregivers.  

Involvement of the brain in some form or other is present in all MPS disorders. In this talk, we will explore how neurocognitive function is measured, the known neurocognitive profile of each MPS disorder and the expected neurocognitive outcome with current therapies. Where available, we will also explore the potential impact of future therapies on neurocognition in MPS disorders.

Alison and Monica joined by John Mitchell, and Michal Inbar-Feigenberg (virtual), will introduce the Canadian MPS patient registry, which was co-developed by the Canadian MPS Society and the INFORM RARE research network at the Children’s Hospital of Eastern Ontario Research Institute. We will explain how the patient registry was developed, who is eligible to participate, what it means to participate, and how the registry data will be used.

Takeda – David Whiteman, Global Program Leader, Rare Genetic Diseases (virtual),
JCR – Ryo Higurashi, Clinical Development Manager of JCR USA,
Ultragenyx – TBD
Denali – Angela LeDay, Senior Director, Medical Science Liaisons,
REGENXBIO – Laura Pisani, Laura Pisani, MD, MBA Senior Medical Director, Clinical Development Lead

Updates from BioMarin, Takeda, JCR, Ultragenyx, Denali, Regenxbio,

Updates from BioMarin, Takeda, JCR, Ultragenyx, Denali, Regenxbio,

Updates from BioMarin, Takeda, JCR, Ultragenyx, Denali, Regenxbio,

Updates from BioMarin, Takeda, JCR, Ultragenyx, Denali, Regenxbio,

Only two options were available when Mark and Jeanne Dant were told their only child would pass away from a rare and untreatable disease within a decade; wait for nothing to change and accept the inevitable, or forge a new path for those diagnosed with rare disease by seeking partners who, like them, would find the courage to believe in the impossible. The Dants chose the to fight. Their journey to find treatment for their son Ryan has been documented on CBS 60 Minutes, the Today Show, CNN, Biography Magazine, Readers Digest in 13 languages worldwide, Golf Digest and numerous other television and news outlets across the US and around the world.  

A personal account of a family living for over 20 yrs with the trials and tribulations of an MPS life .

As the father to Henry Lucas, (MPS IIIC, Sanfilippo Syndrome) sleepless nights, anxiety, depression, mental health challenges and the overwhelming grief that can be unbearable – “Pressed but not crushed” is often a daily experience. I have been called through my faith to Chaplaincy to support others in grief. Walking with my son Henry, sharing his voice and supporting others through grief and trauma are the greatest challenges and greatest honors of my life.  Henry is a gift in our family’s walk and although a hard walk, it is a walk that has shown me the value of today and the importance of joy, hope and love. Looking forward to sharing.