Industry Symposia

WMS Industry Symposium 1

Bulbar function in spinal muscular atrophy: unmet needs and experiences from clinical practice
Ksenija Gorni, Katlyn McGrattan, Giorgia Coratti, Giovanni Baranello

This symposium aims to discuss the impact of spinal muscular atrophy (SMA) on bulbar function and the associated disease burden, and to explore the current challenges and needs in evaluating bulbar function across all types of SMA. The course and assessment of bulbar function in clinical practice will also be discussed.

WMS Industry Symposium 2

Becker Muscular Dystrophy Natural History and ARCH, an Open Label Study in BMD: Putting the data in Context
Joanne Donovan, Erik Niks, Sam Collins, Barry Byrne

Becker muscular dystrophy is a form of muscular dystrophy resulting from mutations in the dystrophin gene that results in production of a dysfunctional form of that protein. Dystrophin provides a structural link between the contractile elements of the sarcomere and the basement membrane of the myofibers to distribute contractile stress across the muscle.  With absent or reduced functional dystrophin, everyday activity produces contraction-induced injury.  Though variable in the age of onset, once muscle loss and decline starts it is relentless in its progression.   Novel therapies are in development for Becker, including muscle-targeted interventions aimed at positively impacting disease trajectory. In this symposium, Dr. Erik Niks will discuss the disease progression and clinical course of Becker muscular dystrophy and review the most recent natural history data. Dr. Sam Collins will review the 12-month topline data from the ARCH open label study of EDG-5506 in Becker muscular dystrophy.  EDG-5506 is an orally administered small molecule designed to prevent contraction-induced muscle damage in dystrophinopathies including Becker and Duchenne muscular dystrophy.  With new natural history data for Becker becoming available, it is important to look at the data from ARCH in the context. To that end, Dr. Barry Byrne, will provide context of the data for the Becker patient population.

WMS Industry Symposium 3

Duchenne Muscular Dystrophy: What Are the Measures That Matter?
Laurent Servais, Tina Duong

With the arrival of new treatments in Duchenne muscular dystrophy (DMD), we have witnessed a change in the natural history of the disease. But what does this mean for the patient journey, and how does it impact the way we monitor disease progression and measure motor function?

Join us for a one-hour symposium during which our expert panel, Prof Laurent Servais and Dr Tina Duong, will deep dive into functional assessment tools used in DMD, focusing on the North Star Ambulatory Assessment and how it correlates with the patients’ experience.

WMS Industry Symposium 4

Developments in the Management of Late Onset Pompe Disease
Brian Fox, Heather Shorten, Kristl Claeys, Tahseen Mozaffar

In this engaging Amicus-sponsored symposium, patient advocate Heather will start by sharing her personal experience of being diagnosed and living with late-onset Pompe disease (LOPD), a heterogeneous, progressive and multisystemic disease. The expert physicians will then discuss considerations and developments in the management of LOPD. The symposium will end by highlighting the importance of shared decision-making in LOPD and the remaining unmet needs faced by people living with this disease. Following the presentations, our expert panel will answer questions from the audience.

WMS Industry Symposium 5

Dystrophin in Muscular Dystrophy: Evolving our Understanding
Craig McDonald, Emma Ciafaloni, Jerry R. Mendell

This presentation aims to describe the role and importance of dystrophin, review the heterogeneity of dystrophinopathies caused by different types of mutations in the DMD gene, and expand upon how quantity, quality, and distribution of dystrophin can play a role in determining the function.

WMS Industry Symposium 6

Optimizing Care: Real World Experience in Patients with Late-Onset Pompe Disease
Priya Kishnani, Ratna Sanka, Paula Clemens

In this symposium, a cross-disciplinary panel will offer their perspective on switching their patients therapy. Our panelists will provide an overview of Late-Onset Pompe Disease and current unmet needs of this patient population. Dr. Priya Kishnani will discuss key clinical data, leading attendees into a discussion of real world experience. Each panelist will share unique patient cases, exploring endpoints including patient-reported outcomes data. The symposium will conclude with a Q&A.

WMS Industry Symposium 7

Neurodevelopment and Degeneration in SMA: Focus on Upper-Limb Function in Children
Cliff Bizzell, Basil Darras, Amy Pasternak, Angela Paradis

Accumulated clinical experience is challenging us to rethink the relationship between motor pool composition and motor function. Please join our faculty as they critically examine the clinical data in nusinersen-treated non-ambulatory children, with a particular focus on assessing change in upper-limb function.

WMS Industry Symposium 8

Connecting the dots: all-around care and evidence in Duchenne muscular dystrophy
John Brandsema, Alexandra Prufer de Queiroz Campos Araújo, Eugenio Mercuri

• This symposium will provide the audience with the latest data from key clinical and real-world studies of treatments for patients with Duchenne muscular dystrophy (DMD)
• The speakers will discuss the importance of continuous corticosteroid treatment as the standard of care for patients with DMD
• The big picture of all-around care and evidence for ataluren^a treatment in patients with nonsense mutation DMD (nmDMD) will be considered and the following data will be showcased:
  • safety and efficacy data from Study 041, a long-term, international, confirmatory phase 3 clinical trial of ataluren in patients with nmDMD
  • the latest real-world evidence for ataluren use in patients with nmDMD from the Strategic Targeting of Registries and International Database of Excellence (STRIDE) Registry, as of January 31, 2023
    
    ^aAtaluren is not licensed in the United States. Ataluren is indicated for the treatment of Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene, in ambulatory patients aged 2 years and older in the European Member States and Iceland, Liechtenstein, Norway, Great Britain, Northern Ireland, Kazakhstan, Israel, Republic of Korea, Belarus, Russia, and Brazil, Peru, Chile, Macedonia and Uruguay and aged 5 years and older in the Kingdom of Saudi Arabia, and Ukraine (under special state registration). In Brazil, the indication is specific to male pediatric patients. The presence of a nonsense mutation in the dystrophin gene should be determined by genetic testing (Translarna Summary of Product Characteristics (SmPC) for respective countries).