Rachel Alvarez and Gustavo Dziewczapolski, PhD, of Cure CMD spoke about the benefits of attending the biennial Scientific & Family Conference to learn more about congenital muscle diseases and interact with the patient community.
The 2022 Scientific & Family Conference, known colloquially as SciFam and put on in part by Cure CMD, was recently held from June 30 to July 3, in Nashville, Tennessee, as a way for both in-person and virtual stakeholders in congenital muscular dystrophy (CMD), nemaline myopathy, and titin-related disorders, to meet and share their expertise in managing these ultra-rare disorders.
To highlight some of what goes on at the biennial meeting and what the experts who attend can expect to take away from it, NeurologyLive® spoke with Rachel Alvarez, a patient with CMD and the executive director of Cure CMD, as well as Gustavo Dziewczapolski, PhD, the organization’s scientific director.
For more information about SciFam, head to the meeting website: www.scifam.info.
Transcript below, edited for clarity.
Matt Hoffman: So, to talk a little bit about this year's meeting, obviously, a lot of these types of meetings incorporate an overall theme, or a through-line of themes, for the sessions and presentations that are going on. I'm curious, for Cure CMD, what's been the theme that's been proposed or that that's going to happen for this year's meeting?
Rachel Alvarez: The theme is consistent for all of our conferences. This is a meeting of all of the stakeholders in the congenital muscle disease community. So, Cure CMD partners with A Foundation Building Strength, for nemaline myopathy, and also Team Titin for this meeting because we share a lot of the same journeys, diagnostic odyssey, symptoms, adverse events, as well as researchers and clinicians. It makes sense for us to be able to do this all in one place, and really learn from each other—there's a lot of overlap. It's a really great opportunity to build collaboration between researchers and clinicians, and really advance the field as a whole toward clinical trials and treatments. Gus, do you have anything to add?
Gustavo Dziewczapolski, PhD: No, but I would say that this year, we will showcase the funded research. We want to give the opportunity for them to show and discuss thoroughly the work they are doing. Some of the projects are more at the beginning, and some others in the middle, and some others in the end, but they will blend together and discuss and bring the opportunity for cross ideas and improvement through the discussions. Those are the same projects that we are funding, so we really want to get good results out of them.
Matt Hoffman: Yeah, so that I imagine this is a great opportunity, and probably one of the few opportunities to get such a large portion of the community together. So, I'm curious with you two both having slightly different backgrounds, and obviously Rachel with you being a patient yourself, what do you personally get out of the meeting? What are the benefits that you get from attending and from getting to interact with the different members in different parts of the CMD community?
Rachel Alvarez: All of our programming, and our mission, is really patient-centered. So, the patient voice is at the center of all that we do, all that we fund, and all the programs we initiate. This is an amazing opportunity to get all of the stakeholders in the room with patients and their families to understand what's important to them, for us to understand what's important to them, and for families to really be in a space where [their community is]. Most of this is a very lonely disease, most families don't live near somebody with the same condition that they do, let alone know somebody well. So, this is a really great opportunity for them to all be together and be in that same space and share their journeys, share their stories share their tips and tricks, but also for clinicians and researchers to hear that and understand what does that patient journey look like?
Gustavo Dziewczapolski, PhD: I think that was more direct to you as a patient, but I think it's clear, we have already done conferences where the interaction between the researchers, clinicians, and patients is awesome. It's awesome to see, and especially for bench researchers, it is very important, many times, to meet the patients because they don't get to. It happened to me, myself, when I was a bench scientist working in Alzheimer and Parkinson disease, we didn't have a connection with the patient community at all. This is an interesting interaction.
Matt Hoffman: Yeah, absolutely. I imagine you get to get a ton out of that because when you're doing the research, sometimes you can get detached from what you're actually working towards. I imagine that interaction is super important. I'm curious for you guys, what are the sessions of note, or perhaps speakers of note, that are going to be at this year's meeting, that you're really looking forward to either on a personal level, or just that you think that the attendees will really get a lot out of? again, if things aren't super set hard hardline with the agenda yet don't don't feel the need to point out a specific session title. But if there's any speakers that are planning to be there that you guys are looking forward to hearing from you, I'd love to know who those might be.
Rachel Alvarez: We have an amazing core set of physicians, and other neuromuscular clinicians and researchers. I mean, we've got I think, over 50 experts coming to talk in one space or another. Congenital muscular dystrophy is 5 distinct subtypes, and then add onto that nemaline myopathy and titinopathy, we've got 7 distinct conditions that we're supporting through this to this conference. So, we've got a lot of great speakers. You can find the full agenda at scifam.info to get the full list, but the probably our greatest partners in this are Dr. Alan H. Beggs, PhD, and Dr. Carsten G. Bönnemann, MD; and Dr. A. Reghan Foley, MD. Those are the three that helped us build out agenda and purpose and participate in most of these events that we host. But, that's not to diminish all of the other amazing experts that are going to come and speak.
Matt Hoffman: Gus, anything you're specifically looking forward to for this year's meeting? Whether again, it's a specific speaker you're looking forward to seeing or connecting with, or a session, perhaps, that you think the community might get a lot out of?
Gustavo Dziewczapolski, PhD: Besides wha t Rachel mentioned about Dr. Bönnemann, and Dr. Beggs, and Dr. Foley, we look at all of the community because they are the real experts. We all are looking forward to having them and meeting them again, and they will be more than one-third of the sessions and in the discussions, because the sessions, as I mentioned before, will be more focused on their research that is funded by the association. So, all the grantees will be there showing their work and we will discuss. We’ve organized the sessions by modality of research, modality of potential therapeutics such as gene therapies. We look forward to seeing really all of them because they would show the bands in the research that is funded by us.
Rachel Alvarez: We're also really fortunate to be hosting an externally led patient-focused drug development meeting. That is an FDA listening session of sorts, where they learn about the 5 subtypes of CMD, and really understand that patient journey to be better informed when they receive IND applications for treatments.
Matt Hoffman: That I mean, that certainly sounds interesting. The last thing with regard to the conference that I want to ask about is if there's anything I didn't ask about that you think is worth noting? What's your elevator pitch to the clinical community? In addition to what we've talked about with the networking opportunities within the community and the opportunity to engage with one another, what are the reasons they should attend?
Rachel Alvarez: So, for one thing, we're doing this as a hybrid meeting, because I think COVID is still a real presence at all of our lives. We want to really give people the opportunity to attend if they're not feeling comfortable traveling, or if there's some reason they can't be vaccinated—all of our in-person attendees must be show proof of vaccinations. We're really focusing on the health and safety of, really, our vulnerable patient community.
The elevator pitch is really that these are such ultra-rare conditions that a lot of physicians maybe have never encountered. They’ve never treated somebody with a congenital muscle disorder, or maybe have only one patient. This is a really great opportunity to be with experts, other clinicians who have treated lots of these patients and learn from them. And really, also learn from the patients so that when they go back home to their practice, and then they do end up receiving one of the one of these patients, they're better informed, and can really get them on a schedule of really proactive maintenance and care.