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2019 SciFam Lay Summary: Stronger Together

Updated: Feb 18, 2021

A “Triad” of patient advocacy organizations for ultra-rare congenital muscular diseases, Cure CMD (Congenital Muscular Dystrophy), A Foundation Building Strength for Nemaline Myopathy, and Team Titin (Titinopathy) successfully convened in a tight but enlightening scientific and family agenda. We are tremendously satisfied with the outcome – matching our original objectives of bringing more than 80 researchers together, from basic to translational to clinical backgrounds, to synergize collective knowledge and experience to accelerate the bench-to-bedside pipeline toward clinical trials and to share their expertise with the patient community.

The symposium began with a comprehensive lecture by three of the world leaders in research and care for congenital muscular diseases (CMDs): Professors Carsten Bönnemann, Alan Beggs, and James Dowling. To a diverse audience of international researchers, clinicians, health-related government officials, industry representatives, patient organizations’ staffers and a group of affected individuals and caregivers, the speakers delivered an historical overview from the original descriptions of the different subtypes of CMDs to the current landscape on their pathophysiology and symptomatology, highlighting common and unique characteristics and disease mechanisms of each subtype. This kick-off session laid the groundwork to the rest of the conference that deepened in more focused talks and specific panel discussions.

We then shifted gears to a series of 29 individual presentations over two days by researchers currently or recently funded by Cure CMD, AFBS, or Team Titin. Presenters shared technical details and prolific preliminary results in some cases, strong data in others, as well as pitfalls and future directions of their research. All presentations received expert audience feedback, which in most cases served or will serve to refine the experimental strategy and/or next steps to maximize their chances of success and drive research forward for these conditions.

Presentations on congenital muscular dystrophy touched upon the five specific subtypes (ColVI, LAMA2, LMNA, SEPN1, and aDG), showcasing a wide assortment of specific animal and cell models as well as a diverse battery of therapeutic approaches with a strong preponderance of molecular therapeutics like oligonucleotide antisense, gene editing, and gene therapies.

Presentations on Titinopathy covered progress on this understudied giant sarcomeric protein and how lessons from other muscle disorders are catalyzing approaches to diagnosis and therapies.

Rounding out the presentations was a wide research portfolio encompassing studies of classical pharmacology with new and repurposed small molecules, all the way to testing CRISPR Cas9 gene editing as a therapeutic strategy for nemaline myopathy (NM) . Scientists also presented new animal models for NM, both in zebrafish and mice, which will enrich the toolbox for fundamental pre-clinical investigations. Here again, the presentations triggered profuse audience feedback which will generate nothing less than improvements in the experimental design moving forward.

In addition to individual research updates, the scientific symposium also included sessions focused on lessons learned from current or past clinical trials in neuromuscular conditions. Clinical trial leaders for the first-ever phase 1 clinical trial in congenital muscular dystrophies, Reghan Foley (Omigapil trial); for RYR1 by Katherine Meilleur (NAC trial); for XLMTM by Nancy Kuntz (Gene replacement therapy candidate AT132), and finally, trial experience in Duchenne and SMA, shared by Laurent Servais, re-energized the audience and influenced the idea that a success in one neuromuscular disorder is a success for all. The experiences described helped identify the successes and challenges, not only from the strict cold medical data obtained but just as importantly, the invaluable input from affected individuals, families and caregivers who participated in those trials.

During breaks, a free-flowing poster session with 33 scientific posters on display provided informal means for exchange, knowledge, and working hypotheses. The room was crowded and conversations extended way over the time originally planned, affirming the critical value of 1:1 interactions among the stakeholder community. We were overwhelmed and touched by the warm interaction, exchange of experiences, questions asked and answered, laughs and tears and expressions of gratitude among the diverse group of attendees during coffee, lunch and poster breaks.

The remainder of the scientific symposium convened several lively discussions between presenters and audience. Professors Bonnemann, Dowling, Oates, and Servais shared their experiences with Natural History Studies in neuromuscular conditions and how instrumental each was to clinical trial readiness. They analyzed and shared which outcome measures we have and which we still need, to start in some cases or complete in others. Presenters emphasized the feedback expressed by study participants to incorporate in future NHS design. The topic drove open discussions on the best use of our patient registry, not only for recruitment but also to analyze retrospective data to inform prospective study design, and strategies to identify and/or improve outcome measures and clinical trial endpoints. This discussion was also illuminating for the affected individuals, families, and caregivers in attendance.

Next, we turned to a session on the overview and consideration of current therapeutic developments. Here, the overwhelming feeling that a whole scientific conference would be needed to explain and provide data on the myriad of potential therapies for CMDs was actually transformed into an exciting feeling that community efforts, dedication, and collaboration is moving the bench-to-bedside pipeline on the right track and with increased speed. The panelists were clever in matching different CMD subtypes with specific therapeutic mechanisms, demonstrating that cross-sectional opportunities for therapies in CMDs are not only possible, but must be pursued. This session flowed into open discussion that included patient community representatives who asked insightful questions and shared the patient perspective, sparking a discussion about experimental tricks and tools, and generating a broader collective understanding about disease mechanisms and treatments opportunities.

The scientific symposium reinvigorated the stakeholder community, and reminded us that we are, in fact, stronger together. These two days of intense scientific dialogue provided the “triad” with plenty of elements to elaborate short, mid-, and long-term subtype-specific plans and to design a set of priorities for our upcoming research funding cycles. We are already generating new ideas for the next phase of our work in patient-centered research.

The second half of 2019 SciFam was focused on building community and connections among affected individuals, families, caregivers, researchers, and clinicians. At registration, conference staff greeted veteran and new community members alike, ushering them to a beautiful welcome reception where families forged new bonds, strengthened existing ones, and had the opportunity to speak one-on-one with the world’s top experts in CMD. There is no way to truly convey the importance of these kinds of exchanges – for affected individuals and their families who live largely in isolation, the opportunity to be among not only others like them, but specialists who actually understand their disease was life- changing for many of the attendees.

Day one of the family conference began with a brief welcome, followed by a plenary session on Pulmonary Care hosted by five CMD experts, Oscar H. Mayer, Oren Kupfer, MyMy Buu, John Pascoe, and Reghan Foley, who covered many aspects of this incredibly critical topic. Subtype-specific breakout sessions followed on topics of care and research. Attendees then came back together toward the end of the day for a plenary session on Feeding and Nutrition led by Ajay Kaul and Stephen Chavez, and an Orthopedics and Physical Therapy session led by Stephen Mardjetko and Meghan Burnstine.

The day ended with a group dinner across the river in downtown Chicago, where more than 300 individuals enjoyed a buffet meal, followed by informal after-hours social time for specific age groups. One such informal and highly-rated session was SALT: A Men’s Gathering, designed for dads and led by community advocate Levi Gershkowitz, where fathers gathered at the bar to share their unique perspective around caring for, and living with, special needs children.

Day two of the family conference was all about creative “lifestyle” sessions tailored specifically to the needs and requests of the CMD community. Session topics included:

  • 504/IEP: Getting the Most from Public School Support

  • Adaptive Clothing

  • Adaptive Sports

  • Adaptive Vehicles

  • Body Awareness Seminar (For Parents and Professionals)

  • Caregivers: Self-Care

  • College Experience

  • Developing Tech for the Measurement and Care of Contractures

  • Disability Travel

  • Let's Talk about Sex (for affected Young Adults, Adults, and their Partners)

  • Life Hacks & Navigating the Healthcare System

  • Rare Disease Legislative Advocacy

  • Sib Shop: The Sibling Experience

  • Social Security Benefits Explained

  • Special Needs Financial Planning

  • Transitioning through the Teen Years (For Parents and Professionals)

  • Transitioning to Adulthood (For Parents and Professionals)

Many of these sessions were recorded and will be available over the next few weeks on Cure CMD’s YouTube channel. Conference feedback and evaluations have been exceptional, with more than 80% of respondents rating the conference excellent or good in all categories (overall, venue, location, speakers/presenters, content, and length). We know that this experience will continue to resonate with all of our attendees as a life-changing event for years to come, and we are so grateful for your partnership to make this event possible.

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