As potential treatments for rare diseases such as XLMTM are being developed, it is essential that when and if they are approved for clinical use that they will also be accessible by all the patients that need them. Current pricing and reimbursement models would be a major obstacle, especially for single-dose treatments that have cost hundreds of millions of dollars to develop.
U.S. Senator Bill Cassidy, M.D. (R-LA), and Senator Mark Warner (D-VA) on Jan. 29th released a draft version of the Patient Affordability, Value and Efficiency Act. This bipartisan legislation aims to facilitate new and innovative payment models for pharmaceuticals and other medical services so that patients have better access to treatment, the health care market is more efficient, and drug prices are more affordable.
The Cassidy-Warner proposal increases the ability to move toward value-based payment, which directly connect pricing for prescription drugs and medical devices to their clinical effectiveness.
MTM-CNM Family Connection was pleased to join several patient advocacy groups in signing a letter of support for Cassidy & Warner’s efforts. Read the letter attached below, and the press release at www.cassidy.senate.gov/newsroom/press-releases/cassidy-warner-unveil-draft-legislation-to-lower-drug-prices-through-innovative-payment-models.
With best wishes for 2019 to all of our MTM-CNM community. Hope to see you in St. Louis this July!
Join our Crowdrise campaign for the upcoming conference at https://www.crowdrise.com/o/en/campaign/2019-mtm-cnm-family-conference.
Yesterday, Audentes Therapeutics provided a quarterly company update, including information on their lead program - clinical development of AT132, a gene therapy product targeting X-Linked Myotubular Myopathy (XLMTM). Their Phase 1/2 clinical trial, called "ASPIRO", is well underway, and they state:
"...we have recently completed enrollment of the Cohort 2 dose of 3x1014 vg/kg, including three treated patients and one untreated control patient. We look forward to engaging with the FDA and EMA in the coming weeks to discuss development plans and the potential registration pathway for AT132, and to advance our goal of making this important treatment available to patients living with XLMTM as rapidly as possible."
Additional information in the full press release may be found on the Audentes website here. Also, as has been their practice, Audentes has shared a letter with our community, which can be read here.
Erin Ward, President of MTM-CNM Family Connection, has been serving as a Parent Partner for the Boston Children’s Hospital process design team participating in an Agency for Healthcare Research and Quality-sponsored, Harvard Chan School of Public Health-led Engineering High Reliability Learning Lab, since the program’s inception in 2015. The team’s work has focused on improving the process for complex spine surgery. Today, the team's shared Decision-Making Guide and patient-centered video series has been released by the project’s collaborative partners at Courageous Parents Network. Erin shares more in the blog post below:
In 2014, Will had major spinal surgery and although he rocked the surgery, the process to get there seemed so much more challenging and complex then it should be. Much of the coordination to communicate perioperatively with Will’s multiple specialists was on us, his parents. At the time I had been working with a complex care specialist on another project, and began to share the challenges we experienced. He listened and heard the complexities of the process, and he believed that as a universal care system “we” could do better! Dr. Jay Berry was in the process of applying for a multi-institutional grant, which came to be known as “Engineering High Reliability Learning Labs" (EHRLL). Under this grant, medical entities including our team from Boston Children’s Hospital would collaborate with Harvard’s Chan School of Public Health and Northeastern University’s Health Systems Engineering team to create better care processes using systems engineering principles, aiming to improve the quality of health delivery.
Since 2015, our team has been working to improve the process that patients experience when considering, and undergoing, major spine surgery. There are many learnings that have developed out of this work. Today, the team's shared Decision-Making Guide, that we hope may be helpful for patients and families who are considering spinal surgery, was released by our collaborating partners at Courageous Parents Network (CPN). CPN has also worked with our Boston Children’s Hospital team to develop a series of videos that share conversations about the challenges and considerations of complex spine surgery from the perspectives of a parent, complex care physician, and surgeon. We hope that the conversations captured will allow patients and families facing a potential surgery an opportunity to consider how to go through this complex decision making process. We encourage families to partner with their providers and work to develop a personalized care pathway that will be best for their child and family. Please feel free to share with those that might benefit and also please share any feedback as the shared Decision-Making Guide is a living guide, intended to be updated and modified to best serve families and medical professionals partnering with them to provide optimal care.
Hey y’all! July is just around the corner, and we need your help! Time is running out to get the needed funds raised for the 2017 MTM-CNM Family Conference in Nashville!
An unparalled experience
If you’ve been to one of our previous MTM-CNM Family Conferences, you know just how special they are. If you haven’t been yet, here is what some past attendees have said:
The cost of the Conference
While the value to families and researchers alike is priceless, overall the conference weekend costs us nearly $300 per person. The bulk of the cost of the conference comes from the hotel facilities, meeting space, catering and service, which translates to about $40 per person for each lunch and $60 per person for each dinner. Other expenses include kids activities and supplies and various other related services that make the conference special. This does not include the cost of hotel rooms which are paid by the attendees.
Who pays for it?
We are extremely grateful to be lining up a number of generous corporate sponsors again for the 2017 MTM-CNM Family Conference. These are organizations who support our community and our efforts, and have some vested interest in helping to gather as many of us together in one place as possible. Like us, they seek to drive research forward towards effective treatments, and to support families in every stage of dealing with MTM/CNM. We couldn’t do this conference without them.
However, despite their generosity, sponsorships do not cover all the expenses of our conference. After all, this is a family conference, created by families, run by families, and with families at the heart of the whole experience. And we want all families to be able to participate, with as little direct cost to them as possible. Therefore, we make this heartfelt appeal:
We need your help!
We are asking each family to help make this conference happen, by raising $500 or more for MTM-CNM Family Connection, by May 1st. If you can raise even more, that would be wonderful. If you can’t raise that much, we are grateful for whatever you can contribute - even if it is just words of support. The more money that we can raise as a community - as a family - the better we will be able to serve each other and continue to make a meaningful difference in the lives of those affected by myotubular and centronuclear myopathy. Let’s make April 2017 a month of amazing MTM-CNM fundraising! May 1st isn’t a hard deadline - our fundraising goes year-round - but we need to have our financial picture clear as we get closer to the conference in July.
If you have the ability to make a $500 or more donation yourself, that is of course welcome, but what we are really hoping for is active participation in some form of fundraising. This helps beyond just the dollars: it gets more people contributing, which means more people involved and aware and joining us in our mission.
How to get started?
The simplest way that anyone can get involved in this fundraising is through our partnership with Crowdrise. Go to https://www.crowdrise.com/2017-mtm-cnm-family-conference and click “join the team” to set up your own profile page. It just takes a couple minutes! You can add your own photos and tell your own “story” if you wish, describing what the conference means to you. Then share your page with family and friends to request donations - easy! Just 20 donations of $25 each will get you to the $500 target. The donations are tax-deductible and transactions are handled securely by Crowdrise and Network for Good. If you need any help setting up your page, just ask!
There are a number of other ways to get involved with fundraising, from hosting online product sales (we’ve recently benefited from LuLaRoe, Pampered Chef, Thirty-One, Younique) to 5k runs, yard sales, lemonade stands, “jeans days”, race sponsorships, and whatever else you can think of! If you want to do something but aren’t sure what (or how), feel free to contact us via email or start up a discussion with other families in our closed Facebook Group.
If fundraising falls short of our goals, then we will have to cover more of the costs through registration fees, which we would rather not do since higher costs may make it difficult for some families to attend. So as an additional incentive, we will be offering $100 off registration for every $500 an individual or family raises.
Just do it!
The most important thing is to be involved - however you are able. Families, this is our conference. We can’t wait to see you there, and we thank you for helping to make it happen. Let’s do this together!
We are pleased to share this news from Dynacure, a new biotech company developing a novel treatment approach for Centronuclear Myopathies: http://www.dynacure.fr/news/dynacure-appoints-its-management-team-and-members-of-the-board-of-directors/
At our 2015 MTM-CNM Family Conference in Chicago, Dr. Johann Bohm from IGBMC in Strasbourg presented some of the early scientific work from Dr. Jocelyn Laporte’s lab (supported by a research grant from the Myotubular Trust) which has led to the creation of Dynacure in 2016. Dr. Belinda Cowling also presented on this topic at the 2016 European Family Conference in Germany (organized by ZNM-Zusammen Stark and Myotubular Trust). For a short summary of the theory behind Dynacure, please check out the article by Dr. Cowling on page 3 of this newsletter from ZNM-Zusammen Stark.
We are grateful for Dynacure joining as a sponsor of our 2017 MTM-CNM Family Conference, and we look forward to hearing more from them this July in Nashville!
As the year is coming to a close and the holiday season upon us, our hearts are warmed by the thoughts of our amazing community of family and friends who make our “MTM-CNM Family” so special. We are thankful for you in so many ways. In particular, as today is “Giving Tuesday”, we want to thank all of those who support our mission financially. Giving Tuesday is a wonderful tradition formed in response to the commercialism of Black Friday and Cyber Monday, and shifts the focus from “buying more stuff” to supporting important causes that make the world a better place. The MTM-CNM Family Conference literally would not exist without the support of families and sponsors, and we have heard from families and medical professionals following each Conference, of the life-enhancing and life-changing experiences that happen in our community because of the connections that are created and sustained through the Family Conference.
We are excited to offer a new way to support our efforts, that we hope many will utilize. We understand that it is not always easy to make a large donation - sometimes the money just isn’t there and bills have to be paid. And so we have created a budget-friendly tool: automatic recurring donations. If you had the opportunity, would you be willing to buy someone in your MTM/CNM family a drink from Starbucks once a week? Or perhaps get together for a pizza or dinner out once a month? If only we were all closer together! So do the next best thing - invest that money in community connections made through the Conference! When you set up a recurring donation, you choose the amount and the frequency and your contributions will be made automatically - it is super easy! Perhaps you can commit to $5 a week, or maybe $50 a month - whatever the amount, you will be making an ongoing commitment to MTM-CNM Family Connection and helping make the Conference a wonderful experience for all. Donations are tax-deductible and can be cancelled at any time. Get started today!
We’re also looking to expand our fundraising team at Crowdrise! This is a fun and easy way to partner with us and help us meet our financial goals, with our primary goal to keep expenses as low as possible for families to attend the Conference. By joining the team, you can set up your own profile where you tell your “story” of what the Family Conference means to you or your connection to our community. Then be as creative as you like in spreading the word and gathering donations from your family, friends, coworkers, etc. Donations can be made directly through your Crowdrise page or collected offline and credited to you (for example, if you want to hold a fundraising event). All the tools are there for you to track your progress, thank your donors, update your followers, etc. There is no minimum amount required to raise, but we encourage you to dream big! If you want to help but have questions or aren’t sure how to get started just contact us.
However you are able to give - whether financially, or by sharing your time and talents, or even just words of encouragement and support - we are grateful. We couldn’t do it without you. Thank you for being our #mtmcnmfamily. Hope to see you in Nashville next July!
Here are the top tidbits and tweets from MTM-CNM Family Connection for the month. Thanks for staying connected!
Members of our MTM-CNM Family Connection Team recently attended the 2016 RARE Patient Advocacy Summit, hosted by Global Genes, September 20th & 21st in Huntington Beach, CA. With the beautiful backdrop of palm trees and the Pacific Ocean and in an atmosphere of innovation, energy, and alliance, patient advocates from the greater RARE disease community came together to learn from each other and from the scientists, researchers, philanthropists, artists, and others working hard to support and spread awareness on behalf of our communities.
One of the primary takeaways from this conference was that although each individual rare disease community is small, there are over 7,000 identified rare diseases with millions being affected. That means almost everyone, whether aware of it or not, knows someone RARE. Sadly, only 5% of these diseases currently have an FDA-approved treatment. However, this is where the cumulative power of RARE can make a difference, and Global Genes has really stepped up to the plate in providing support and learning opportunities for everyone at every stage by leveraging the strengths of each community's advocates.
During breakout sessions, RARE advocates who had succeeded in particular areas, such as community building, establishing advisory boards, fundraising, soliciting volunteers, utilizing social media to spread awareness, coordinating longitudinal studies, and pushing forward on the path of clinical trials, eagerly shared what had worked and what had not, often opening up the floor for feedback and participation. The roles of teacher and learner were fluid and dynamic as advocates spoke to their strengths and then sought mentorship in areas needing to grow. So speakers in one round of breakouts would be audience participants in the next round.
For us, it was valuable to glean knowledge and insights from other communities that are further along in clinical trials, and we were happy to share our expertise with other rare disease groups that are just getting off the ground or planning their first family conference. The conference presentations were informational, the spirit of collaboration palpable, and the universal commitment to work until all rare diseases are curable, undeniable! Galvanized by this positive, exhilarating experience, we came away more committed than ever to continue in our mission to connect MTM & CNM families to essential resources, active research, and life-enhancing relationships!
Myo, our MTM-CNM Traveling Turtle, also made the trip and made his rounds at the summit, meeting patients, family members, researchers, pharma industry and government agency leaders. We had an opportunity to share with other patient groups how Myo travels around the world with the goal of connecting our community and spreading awareness of MTM & CNM. Myo was happy to meet some new friends and also did some advocacy work as well, supporting the #CURESNOW campaign through social media.
MTM-CNM Family Connection's Blog
Sharing information, resources, updates, and thoughts on various topics of interest to the MTM-CNM community.