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DM Highlights at American Academy of Neurology Annual Meeting

Published on Fri, 06/02/2017

MDF staff recently attended the 2017 annual meeting of the American Academy of Neurology, in Boston, MA. Here are highlights from that meeting.

Clinical and histopathological findings in myotonic muscular dystrophy type 2 (DM2): retrospective review of 49 DNA-confirmed cases.
Bhaskar Roy, Qian Wu, Charles Whitaker, and Kevin Felice.

A better understanding of the natural history of DM2 is essential to the design of interventional clinical trials. This poster reviewed clinical profiles of a cohort of 49 confirmed DM2 cases seen over 24-years at Beth Israel. Proximal lower limb weakness was the most predominant symptom, although weakness ranged from absent to severe. Myotonia, grip strength, and FVC also showed considerable variation. Approximately half of study subjects had cataracts.

Evaluation of postural control and falls in individuals with myotonic dystrophy type 1.
Katy Eichinger, Jill R. Quinn, and Shree Pandya.

Clinical trial endpoints that measure parameters meaningful to patients will be necessary for registration trials in myotonic dystrophy (DM1). This poster presented an assessment of postural control and self-reported falls in a cohort of 34 DM1 subjects, studied over a 12-week observational period. Postural sway measurements in DM1 subjects differed significantly from norms and showed good test/re-test reliability. None of the postural measures used were predictive of fall status, although this may be due to the small sample. Further evaluation of postural status may yield reliable, clinically meaningful clinical trial endpoints.

Identification of dysregulated musclin expression and elevated atrial natriuretic peptide levels in adult and congenital myotonic dystrophy.
Donald McCorquodale, Katie Mayne, Brith Otterud, Diane Dunn, Bob Weiss, and Nicholas Johnson.

Understanding tissue-level molecular changes in DM can guide biomarker development as well as identify novel therapeutic targets. This poster addressed two components of a pathway that mediates response to exercise. Musclin expression, an upstream regulator of atrial natriuretic peptide (ANP), increased in skeletal muscle of congenital myotonic dystrophy (CDM) and DM1, accompanied by increases in ANP clearance receptor (NPR3) and ANP. Disregulated musclin/ANP signaling may be linked to weakness and exercise intolerance in CDM and DM1.

Correlation between MRI cerebral white matter changes, muscle structure and/or muscle function in myotonic dystrophy type 1 (DM1).
Cheryl Smith, Peggy Nopoulos, Richard Shields, Dan Thedens, and Laurie Gutmann.

Understanding any linkage between CNS and skeletal muscle changes in DM1 may provide insights into putative biomarkers and clinical trial endpoints. This poster presented pilot data on potential CNS contributions to skeletal muscle structure and function in a DM1 cohort. Data show correlations between an MRI measure (global cerebral fraction anisotrophy—a measure of white matter abnormalities) and both MRI measures of lower limb muscle structure and a lower extremity tracking task (a measure of functional weight bearing movement). The authors concluded that these data suggest that CNS changes in DM1 play a role in neuromuscular functional deficits.

Borderline CNBP CCTG expansions in myotonic dystrophy type 2 in over 16,000 specimens analyzed in a clinical laboratory.
Elise Nedzweckas, Rebecca Moore, Marc Meservey, Tara McNamara, Nicholas Tiebout, Zhenyuan Wang, Sat Dev Batish, and Joseph Higgins.

The frequency of DM2 expansions in the pre-mutation range (CCTG repeat length of approximately 177-372) is unknown. This poster from Quest Diagnostics utilized PCR, PCR repeat-primed, and Southerns to determine CNBP CCTG expansion lengths in 16,253 samples. The frequency of ‘borderline’ repeats was 0.97%, a value larger than in previously published studies. The potential for repeats in this borderline range to expand to pathologic lengths is, as yet, unknown.

Genetic markers of myotonic dystrophy type 1 (DM1) and Duchenne muscular dystrophy (DMD) in human urine.
Layal Antoury, Ningyan Hu, Leonora Balaj, Xandra Breakfield, and Thurman Wheeler.

Availability of a non-invasive biomarker to track target engagement/modulation of candidate therapeutics would be valuable to any DM clinical trial, and elimination of muscle biopsies would be critical for trials in pediatric CDM subjects. The platform presentation reported analyses of exosomal RNA in blood and urine of DMD, BMD, and DM subjects. Serum showed no differences between DM1 and controls. Several splicing event alterations known to change in skeletal muscle were not detected in urine. But, at least 10 transcripts were differentially spliced in urine that followed patterns seen in skeletal muscle and thus showed potential as non-invasive biomarkers. The source of differentially spliced transcripts in urine was thought to be the kidney or other urinary tract cells.  The group is working to correlate the pattern of splicing events detected in urine with phenotypic changes in DM1 patients.

Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 distal and proximal muscles.
Giovanni Meola, Laura Valentina Renna, Francesca Bose, Barbara Fossati, Elisa Brigozi, Michele Cavalli, and Rosana Cardani.

Metabolic dysfunction, including insulin resistance and increased risk of type 2 diabetes mellitus are characteristic of DM1 and DM2. While the insulin receptor (INSR) gene is known to be mis-spliced and links to the DM metabolic phenotype, other insulin signaling pathway components may be involved. This platform presentation presented data on insulin signaling pathway changes in DM1 and DM2 muscle biopsies. DM muscle biopsies showed increased fetal INSR isoform and altered expression and phosphorylation of selected proteins in the IR signaling pathway was seen in DM1 subjects. These effects were more pronounced in proximal versus distal muscles. The authors suggest that profiling of changes in INSR signaling pathways markers might emerge as a biomarker for clinical studies and trials in DM.

Increased EEG theta spectral power in polysomnography of myotonic dystrophy type 1 compared to matched controls.
Chad Ruoff, Joe Cheung, Jennifer Perez, Saranda Sakamuri, Emmanuel Mignot, John Day, and Jacinda Sampson.

Excessive daytime sleepiness and fatigue are hallmarks of DM—development of clinical endpoints to reliably evaluate these symptoms will help drive clinical trials. This poster presented data characterizing EEG spectra from nocturnal polysomnography in DM1 vs. controls. DM1 patients showed increases in wake after sleep onset and increased theta power in stage 2, stage 3, and all sleep stages combined when compared to control. EEG spectral power is being further evaluated as a putative biomarker.

DM Voice of the Patient Report Submitted to the FDA

Published on Thu, 05/25/2017

"We will not forget your faces or your stories. Please know that all of your efforts will make a contribution to making [the regulatory review] process go smoother when a new treatment comes to the FDA to be reviewed."  -Dr. Larry Bauer, regulatory scientist, U.S. Food and Drug Administration (FDA)

DM PFDD Meeting Report Submitted to FDA

As many of our community members know, MDF held the first myotonic dystrophy (DM) Patient-Focused Drug Development (PFDD) meeting with key senior leaders from the Food and Drug Administration (FDA) as part of the 2016 MDF Annual Conference in September 2016. The DM PFDD meeting, which was the first Externally-Led PFDD Meeting sanctioned by the FDA as well as the first PFDD meeting focused on DM, presented community member perspectives on the most burdensome and most prevalent DM symptoms and what affected individuals would consider meaningful benefit from future therapies.

Well over 200 community members, industry professionals, academic researchers and FDA representatives attended the DM PFDD meeting live and via the live stream MDF provided. FDA leadership including Dr. Janet Woodcock, who oversees all drug evaluation and research at FDA as the Director of CDER; Dr. William Dunn, who is the Director of the Office of Drug Evaluation 1 – Division of Neurology Products, the division that will review all DM therapies; Dr. Jonathan Goldsmith, Associate Director of the Rare Diseases Program, Office of New Drugs, CDER/FDA; Dr. Larry Bauer, a regulatory scientist in the Rare Diseases Program; and a number of additional representatives from the Office of Health and Constituent Affairs, the Office of Translational Sciences, the Study Endpoints team, and others also attended.

The final task in the DM Externally-Led PFDD initiative was the creation and submission of a Voice of the Patient Report (VOP) to the FDA with comprehensive results of the meeting, including a comprehensive summary of the meeting and discussions, detailed polling results, audience demographics, a listing of FDA participants and panelists, as well as a report on the Benefits/Risks Study MDF conducted with the Silicon Valley Research Group in 2015. MDF submitted the VOP to FDA in May 2017 for distribution to internal FDA leadership, dissemination to the Neurology Products Review Division for inclusion in the benefit/risk framework used to assess potential DM therapies, and to ensure that FDA decisionmakers understand DM disease impacts as described by those living with the disease, and what our community would find clinically meaningful from future therapies.

MDF thanks our PFDD panelists, FDA leadership who helped bring the meeting to life, and Ionis Pharmaceuticals for providing attorney and former FDA professional James Valentine as a consultant on the project.

Questions?

Contact Molly White at MDF via email or phone  415-800-7777.

Related Articles and Blog Posts

Creative Events Raise Funds for Care and a Cure

Published on Mon, 02/13/2017

Each year dozens of MDF families across the country find creative ways to raise awareness and funds for Care and a Cure. We sincerely thank them for the incredible hard work and passion they bring to these events, and deeply appreciate the much-needed funds they raise!

We’ve shared a few of their stories below so you can help us say thank you, and perhaps find yourself inspired by one of them to sign up for a grassroots event of your own!

The Esparis-Kuglers Go the Extra Mile(s)

Sprinting into 2017, former MDF Humanitarian Award winners David Kugler and Dr. Belen Esparis again brought together a team to run the Miami Marathon to raise funds for MDF. More than 20 friends and family members crossed the finish line, raising over $10,000 together for Care and a Cure! Check out their story and fun photos (below).

Asher Adleberg, Fundraiser Extraordinaire

February grassroots campaigns include a sixth birthday event for Asher Adleberg, a young boy in San Diego. Asher told his parents he wanted to help find treatments for his best friend, MDF community member River Jensen, and asked for donations to MDF in lieu of birthday gifts for himself—what an amazing young man! If you’d like to donate, click here and write "Asher and River Birthday Campaign" in the gift dedication space.

Cards and Crafts in Kansas

This February also includes an annual fundraising event presented by the Bormann family of Kansas. Each year, the Bormanns gather friends, cards and crafts for their annual Poker and Pintervention party which raises funds for MDF. Wondering what a Pintervention is? The 3rd Annual Poker and Pintervention Party gives friends, family and colleagues a chance to get creative in support of DM. Some will complete a DIY product selected by Kelly, as a group, while others test their luck and (their poker face) at the game tables. A silent auction will raise additional funds. Visit their event page to find out more.

St. Patrick's Day Shenanigans

On St. Patrick's Day this year, two different groups will channel the luck of the Irish to raise awareness and funds for MDF. Community member Edibell Stone teams with the annual Church Hill Irish Festival in Richmond, Virginia, every year, featuring MDF as a beneficiary and bringing in thousands of dollars to support DM care and research programs. In Victoria, Texas the Christie family and friends host an annual Shenanigans Festival at their local pub, celebrating creative art and music while supporting MDF programming.

The Tough Mudder Returns

This May, Team Addison is back and stronger than ever for Philadelphia's Tough Mudder. Ten friends and colleagues of the Evans family have signed up to get tough and raise funds focused on finding treatments for myotonic dystrophy.

These are just some of the amazing grassroots fundraisers working on behalf of Care and a Cure for myotonic dystrophy. You too can get involved—it can be as simple as turning one of your hobbies and ideas into fundraising event—and we can help. Contact MDF to learn more: 415-800-7777 or info@myotonic.org.

And thank you, from all of us at MDF, for your incredibly important work driving Care and a Cure for families affected by myotonic dystrophy!

 

MDF Releases Toolkit for U.S. Applicants Seeking Disability Support

Published on Tue, 01/31/2017

In 2016, MDF’s Warmline received many phone calls from MDF community members who struggled to complete the application process for federal and state disability benefits, and who needed guidance on how to navigate the complex application process.

To help meet the needs of MDF families who are applying for U.S. disability benefits, MDF is releasing our newest community resource, "Applying for Social Security Disability Benefits", a new toolkit created to help individuals and families understand the process of applying for Social Security Administration (SSA) disability benefits.

The new toolkit was designed to assist individuals affected by myotonic dystrophy in navigating the application process for Social Security Disability Insurance (SSDI) benefits and Supplemental Security Income (SSI) benefits. The Social Security Administration (SSA) oversees both the SSDI and SSI benefit programs, and is the largest of several federal agencies that provide assistance to people with disabilities.

"Many members of the myotonic dystrophy community have indicated that they found the disability claims process to be confusing and tedious, so we prepared the toolkit to make the process much easier for the MDF community to navigate," said Paul Formaker, Program Director at MDF.

The "Applying for Social Security Disability Benefits", is available online, and print versions of the resource are also available by request via email or phone 415-800-7777. 

Eric Hutchinson Raises Funds for Care and a Cure

Published on Mon, 12/05/2016

 

The myotonic dystrophy (DM) community has a strong champion in singer-songwriter Eric Hutchinson. As part of his long-time efforts to support Care and a Cure for myotonic dystrophy, Eric is offering one-of-a-kind fan activities and memorabilia in a new pledge campaign, and a portion of the proceeds will be donated to MDF. Eric is offering private concerts for you and your guests as part of the pledge campaign, a deluxe edition of his album Easy Street, a signed and personalized acoustic guitar, framed lyrics and the opportunity to have a private tour of New York City with him, among other items. The pledge campaign ends on December 31, 2016.

"I’m thrilled to announce the Deluxe Edition of my latest album, Easy Street!" said Eric. "I recently learned about PledgeMusic.com and thought it sounded like a fantastic way to share some of my time, new music and some special memorabilia with all of you. Plus, for the first time ever, ‘Easy Street’ is available on VINYL, the first time ANY of my albums has been on wax. I’ve spent a lot of 2016 educating people about myotonic dystrophy, a condition that has affected my dad and my family for a long time. Part of the proceeds from this PledgeMusic campaign will go to support MDF and myotonic dystrophy research.

"I know firsthand what living with myotonic dystrophy looks like for a loved one and his or her caregivers. I'm committed to helping to find care and a cure for DM and I hope you'll join me. I want to thank MDF for helping my family better understand myotonic dystrophy and letting us know that we’re not alone in living with this disease. I’m donating to MDF because it’s important to provide resources and support to families, and accelerate efforts to find a therapy."

Eric’s commitment to support the DM community is driven by his own personal connection to the disease: His father has DM, and for years Eric lived with fear and uncertainty about his own status. Eric wrote about his family connection to myotonic dystrophy this year in a heartfelt personal essay.

 

MDF Honors Community Leadership Award Winners

Published on Wed, 09/28/2016

The MDF community is an amazing network of volunteers and advocates who inspire us all with the work they do to advance Care and a Cure for DM. Each year at the MDF Annual Conference we honor those who are doing outstanding work with Community Leadership Awards.

Congratulations and an enormous “Thank you!” to this year’s winners!

Advocacy Champion Award Winner

Carolyn Valek: community member with the most outstanding contribution to promoting awareness of DM this year

Carolyn Valek is one of MDF’s original Phone Buddies. She uses her experience as a patient advocate to dispense critical information to those in need. Her warm personality and deep concern for the community help newcomers quickly feel at home.

Carolyn runs the MDF Ohio support group and is an integral part of our newly launched Virtual Caregivers Support Group. She is one of our most devoted advocates, calling representatives on Rare Disease Day, writing letters to Congress to support the Orphan Drug Act, and attending MDF Hill Days in Washington, DC.

Congratulations and thank you Carolyn!

Team MDF Volunteer Award Winner

Loraine Dressler: community member with the most outstanding contribution to ensuring that the people in the best position to help have the knowledge they need to make a difference

Loraine Dressler’s dedication to supporting the DM community and her glowing positivity make her an inspiration to others. Loraine runs MDF’s Orange County support group and will also be participating in MDF’s Virtual Caregivers Support Group.

She takes part in our Grandparents’ Day awareness and fundraising campaign and is a long-time advocate who has met with members of Congress to advocate for DM funding and has provided testimony on the impact DM has had on her family to the Social Security Administration.

Congratulations Loraine! You are wonderful!

Humanitarian Award Winners

Taylor and Eric Jensen: community members with the most outstanding contribution to amassing resources for Care and a Cure

Taylor and Eric Jensen are a formidable grassroots fundraising team. They have turned their annual friends and family crawfish boil into a much anticipated and highly successful community celebration to support Care and a Cure. “Pinching Tails for a Cure,” has raised more than $110,000 since it began in 2013.

The Jensens also do all they can to help raise visibility for DM. They share their family’s story with reporters, participate in MDF awareness campaigns and speak at key events like the Ionis Pharmaceuticals Rare Disease Day employee event to help educate the world about DM.

Congratulations Taylor and Eric! We truly appreciate all you do!

DM PFDD Meeting - Bringing Your Voice to Therapy Development

Published on Mon, 09/26/2016

"We will not forget your faces or your stories. Please know that all of your efforts will make a contribution to making [the regulatory review] process go smoother when a new treatment comes to the FDA to be reviewed."

- Dr. Larry Bauer, regulatory scientist, FDA

Optimizing the Review & Approval Process for DM Therapies

As many of our community members know, MDF held the first myotonic dystrophy (DM) Patient-Focused Drug Development (PFDD) meeting with key senior leaders from the Food and Drug Administration (FDA) as part of the 2016 MDF Annual Conference. We designed the meeting to build on the work MDF has been conducting with the FDA to define and optimize the regulatory pathway for potential DM therapies.

The DM PFDD Meeting – Why Do It?

The DM PFDD meeting, which was the first Externally-Led PFDD Meeting sanctioned by the FDA as well as the first PFDD meeting focused on DM, was conceived to follow on these earlier meetings, and particularly the full-day workshop in 2015, by moving from reports and discussion from regulators, academic researchers and industry professionals to insights and information provided directly by people living with DM and their caregivers. Decision-makers are increasingly realizing that the voice of the patient is a critical element in understanding how to develop and approve therapies that provide clinically-meaningful benefit to those living with a particular disease. Without patient insights, the FDA’s ability to assess the benefits and risks of a particular therapy, and its ability to provide real benefit to patients, is significantly impaired.

Laying the Groundwork – Earlier DM FDA Meetings

Earlier MDF meetings in 2014 and 2015 focused on the status of biomarker and endpoint development, insights and challenges with regard to DM clinical trial design and other key regulatory questions. The full day regulatory workshop MDF hosted in September 2015 included presentations from leading DM clinicians and researchers, and FDA representatives in divisions and offices that impact the regulatory pathway of DM therapies, including the Study Endpoints Team, the Office of New Drugs, the Office of Drug Evaluation 1 - Division of Neurology Products, which will be in charge of the actual review of potential DM therapies, and a number of other functions in the Center for Drug Evaluation and Research (CDER) at FDA.

The Largest PFDD Meeting Ever

Well over 200 community members, industry professionals, academic researchers and FDA representatives attended the meeting live and via the live stream MDF provided. FDA leadership including Dr. Janet Woodcock, who oversees all drug evaluation and research at FDA as the Director of CDER; Dr. William Dunn, who is the Director of the Office of Drug Evaluation 1 – Division of Neurology Products, the division that will review all DM therapies; Dr. Jonathan Goldsmith, Associate Director of the Rare Diseases Program, Office of New Drugs, CDER/FDA; Dr. Larry Bauer, a regulatory scientist in the Rare Diseases Program; and a number of additional representatives from the Office of Health and Constituent Affairs, the Office of Translational Sciences, the Study Endpoints team, and others also attended.

DM PFDD Meeting – Engaging the Audience

MDF held the DM PFDD meeting on Thursday, September 15, 2016 from 1-5 PM ET in a conference hotel located near the FDA campus. James Valentine, a former FDA professional who helped launch the PFDD process at FDA and who now works in private practice advising industry and others in the therapy development arena, facilitated. The meeting began with a review of disease manifestations and a clinical overview from Dr. Charles Thornton of the University of Rochester. We then moved to audience polling to understand the demographics of those attending the meeting, either live in the conference room or via live stream.

Attendees provided information on their diagnosis (DM1, DM2, CDM), whether they were a patient or caregiver, when they were diagnosed, first experienced DM symptoms, their age range, etc. MDF has no information on who the specific attendees were and how they voted; however the demographic information allows us to tie specific polling responses to the demographic particulars of participants - for instance patients versus caregivers, DM1 versus DM2 respondents and much more. Only patients and caregivers were allowed to vote during the polling sessions; academic, industry and federal agency attendees were not.

All polling results displayed immediately on the screen at the close of polling for each question, so that attendees in the room and participating remotely could see how the full audience was voting, and how their answers and experiences aligned with others.

Living with DM – What the FDA Wants to Know

The first panel presentation, entitled Living with DM, took attendees to the heart of the meeting agenda. This session began with remarks from four panelists selected by MDF to represent key elements of the DM community, including patients with DM1 and DM2, caregivers, individuals with congenital or childhood-onset DM, etc.

The Living with DM panel questions were:

  • What 1-3 symptoms of DM have the most significant impact on your life?
  • How do they affect your life on a typical day? On your worst day?
  • Are there specific activities that are important to you that you can no longer do or do as well because of your condition?
  • How have your symptoms changes over time?

MDF panelists for panel one included Glen Wiggans, Athens, GA; Judy Marks, Raleigh, NC; Lee Baker, Roanoke, VA; and Sarah Clarke, New York, NY. Each panelist gave five minutes of prepared remarks responding directly to the questions posed to the Living with DM panel, providing personal stories and examples that painted compelling and vivid pictures of life with DM1, DM2 and the experience of caregiving for family members who live with the disease. Their stories were factual, detailed, moving and sometimes funny, and added immeasurably to the perspective and understanding of those in the room who were there to learn.

Panel One Audience Input

Attendees in the room and participating via live stream also responded to the panel one questions via live and remote polling, and via moderated audience discussion. The audience polling and moderated discussion provided additional voices and perspectives to the FDA and enabled the facilitator to probe more deeply around topics highlighted as particularly significant by the polling responses.

Dr. Janet Woodcock, MD, the head of research and drug evaluation at FDA and a strong proponent of including the patient voice in drug development and evaluation, addressed attendees, congratulating MDF on hosting the first Externally-Led PFDD meeting and outlining additional opportunities for productive patient advocacy engagement in the regulatory environment.

More Community Insights – Challenges of DM, a Short Film

A picture (or short film) is often worth a thousand words, so MDF screened Challenges of DM, a short film we created specifically for the FDA as an educational tool. The film included short interviews with DM community members around the country who do not attend MDF events, and featured voices and experiences we felt were critical to creating a holistic picture of the DM disease experience.

Panel Two – Current and Future Treatments

Four new panelists presented on strategies and interventions currently used in their families to manage disease symptoms, how effective or ineffective these are, drawbacks and side effects, and what they would most like to see from future therapies.

Panel Two questions included:

  • What current treatments or therapies do you use for symptom management?
  • How well are these therapies or treatments working?
  • What are the downsides, if any, to these treatments or therapies?
  • What do you want from an ideal treatment?

Panelists included Pat Dinsmore, WA, DC; Suzette Ison, Morristown, IN; Joachim Boekelmann, Princeton, NJ; and Tom McPeek, Chillicothe, OH. Their presentations highlighted the significant lack of effective treatments and interventions available to people living with DM and the importance of finding and approving effective therapies soon. Audience members responded to the panel two questions during the polling session and moderated discussion, rounding out DM community perspectives regarding disease management strategies and community hopes regarding eventual therapies.

FDA Feedback – Well Done

Dr. Jonathan Goldsmith, MD, who is Associate Director of the Rare Diseases Program in the Office of New Drugs, CDER, FDA, wrapped up the meeting by reflecting on what he, as an FDA participant and listener, had heard from the panelists and attendees. He touched on the very real need that exists for effective therapies, and the profound and ongoing struggles families with DM live with every day. Dr. Goldsmith demonstrated, through his summary remarks, that DM is understood to be a real and specific disease for FDA attendees, and not just "muscular dystrophy".

Perhaps equally compelling, MDF received an email from Dr. Larry Bauer the next day, in which he congratulated MDF on the quality and scope of the DM PFDD meeting, stating:

"Please know that all of the FDA attendees were enlightened, deeply moved and educated about the realities of living with myotonic dystrophy. We will not forget your faces or your stories. The meeting also made it extremely clear how much a treatment is needed for DM. Please know that all of your efforts will make a contribution to making that process go smoother when a new treatment comes to the FDA to be reviewed."

Our Thanks to You

We at MDF would like to thank all our community members who made time to attend the meeting, either in person or via live stream, and participate in the polling that created specific feedback for the FDA. We are incredibly grateful to the panelists who spent significant time writing and editing their remarks, participating in practice sessions and helping represent the DM community to the FDA.

There Is Still Time to Share Your Thoughts

MDF is currently assessing the polling results and analyzing the responses received against the demographic information provided, to understand better how, for instance, DM1 versus DM2 patients responded to key questions, how caregiver input differed from patient input, any interesting regional differences, etc. We will create a Voice of the Patient Report this fall, which we will deliver to the FDA for use in future drug review processes. The Voice of the Patient Report will be critical content the Neurology Review division will take into account when assessing the benefits and risks of specific drugs, and whether they will provide therapeutic benefits that are meaningful to patients.If you were unable to participate via live stream or in the meeting on September 15th, you can still provide answers to the questions posed to panels one and two. MDF will accept emailed or telephone responses to the questions until 5 PM PT Saturday, October 15th, 30 days after the DM PFDD meeting.

Questions?

Contact MDF via email or at 415-800-7777.

 

Fun Family Tradition Supports DM Community

Published on Wed, 07/13/2016

The Jensen family has a long tradition of hosting an authentic Louisiana crawfish boil with live music for their family and friends in San Diego. The Crawfish Boil became a fundraiser in 2012 when Taylor Jensen and her young son, River, were diagnosed with myotonic dystrophy type 1 (DM1). The Jensen's learned first-hand how complex DM is and how it impacts an entire family. After struggling with the initial impact of the diagnosis, Taylor and Eric evolved the family tradition into a fundraiser to support Care and a Cure.

The Fundraiser has two ultimate goals: to raise awarness of the most common form of muscular dystrophy known as myotonic dystophy (DM); and to to raise funds to continue the research that will enable treatments and an eventual cure. This year marks the first time people living with DM are receiving a potential therapy. The first DM clinical trial began this year, evaluating a medication that targets not just disease symptoms but the genetic mutation that causes the disease.

This year the Jensen Family had their 5th Annual Crawfish Boil Fundraiser ("Pinching Tails for a Cure") hosted at the San Diego Harley Davidson Dealership. Thanks to the sponsors and donors, the Crawfish Boil was a success, raising over $30,000 - bringing that to a total of $110,000 over the last five years!

You can read more about their personal journey with DM in this letter from the Jensen family.

Are you interested in hosting a fundraiser for Care and a Cure? MDF is here to help.

MDF Active at the 2016 BIO International Convention

Published on Thu, 06/30/2016

The annual Biotechnology Innovation Organization's (BIO) International Convention was held in San Francisco, CA earlier this summer. BIO represents more than 1,100 biotechnology companies and other organizations, and the annual Convention usually attracts more than 15,000 attendees. BIO is the trade organization that represents biotechnology and pharmaceutical companies, academic institutions, and biotechnology centers and organizations dedicated to innovation in biotechnology. The annual BIO Convention provides unprecedented partnering opportunities, and thus is a critically important forum for MDF to both learn from and educate potential partners in drug development for myotonic dystrophy.

The BIO Convention provided MDF with myriad opportunities to meet with industry partners that are already working in drug development for DM, have potential interest in DM, or are developing technology that MDF believes could be used to create potential therapies for DM patients. 

MDF staff and board member Dr. Woodie Kessel met with senior representatives of 11 different biotechnology companies at BIO, who are either existing partners with drugs in preclinical or clinical development for DM (including AMO Pharma and Amorchem/Roche), or currently in early stage development efforts. 

Staff also used the face-to-face meetings to evaluate the applicability of technologies such as gene therapy via companies experienced in cell line development as potential DM treatments. MDF used the meetings to describe the comprehensive infrastructure, data collection, funding and other efforts put in place by DM stakeholders (including MDF) to lower the risks to new DM drug development, to help ensure that the DM drug development pipeline continues to expand.

Drug discovery and development programs are inherently high-risk investments for pharmaceutical and biotechnology companies. Engagement and recruitment of new companies to work on DM, as well as continuing efforts to foster companies already working in the area, are critically important goals for MDF. 

International Expert Team Meets to Finalize First-Ever DM Care Recommendations for Doctors

Published on Thu, 06/09/2016

As many MDF community members know, MDF has been working with a group of expert clinicians from across Western Europe, the U.K, Canada and the U.S. for the past year to develop consensus-based clinical care recommendations for myotonic dystrophy. We first talked about this project as part of a larger story about our three year, multi-million dollar drug development and care expansion effort. We have made excellent progress since we first mentioned this program in May 2015, and we are pleased to bring you an update on this unique initiative.

What Are Standards of Care and Why Are They Important?

Standards of care are critically important to help ensure that all patients with a particular disease receive appropriate and beneficial clinical care. They are typically based on rigorous data captured through large, anonymous research studies, and are usually developed and issued by the leading professional organization for that particular disease. In the case of myotonic dystrophy, that organization in the U.S. is the American Academy of Neurology (AAN). AAN has been working on an Evidence-Based Guideline for myotonic dystrophy for over five years, and hopes to publish it in 2017.

Clinical care guidelines will be particularly meaningful for the DM community because, as our community knows well, many doctors who do not see DM patients regularly are not aware of the range and variation in symptoms that are part of living with myotonic dystrophy. They do not necessarily know what testing, exams and follow up are appropriate for people living with DM, and they may miss important impacts to some organ systems. Often it is the DM patient who educates the physician about the disease and the care that is needed. MDF is committed to helping ensure that care recommendations are available and delivered to the clinical professionals who treat DM patients.

The DM Guideline, when it comes out, will be published and disseminated to neurologists in the U.S. It will not address most of the organ systems and symptoms of importance to myotonic dystrophy patients because the studies needed to gather the evidence required to establish a guideline have not been conducted.

MDF is working with the AAN to support the eventual dissemination and publication of the DM Evidence-Based Guideline when it is ready, and most of the members of our Scientific Advisory Committee are part of the team involved in its creation. Dr. Tetsuo Ashizawa, formerly the head of neurology at the The University of Florida and now leading neurology research at Houston Methodist, is the lead clinician on The DM Guideline.

What are Care Considerations and How Are They Different?

MDF has had a number of meetings with the U.S. Centers for Disease Control (CDC) and the AAN to understand what the newest publication date is for the evidence-based guideline, and how robust the final publication will be. The AAN and CDC have heavily encouraged MDF to pursue the development of consensus-based care recommendations in order to ensure that comprehensive care recommendations are available to all clinicians treating DM patients because a comprehensive evidence-based guideline is many years away.

Consensus-driven care recommendations are clinical care recommendations developed by experts in the appropriate disease field, who work through a formal consensus-development process to come to agreement on how patients across many countries and continents should be treated to help patients maintain health and improve their quality of life.

The Myotonic Dystrophy Care Considerations

In the case of the DM Care Considerations, MDF has assembled a truly world-class team of 60 expert clinicians from across the globe, in fields as diverse as cardiology, pulmonology, occupational therapy, pain and family planning, to work through a consensus-building process to create the first-ever clinical care recommendations for adults with myotonic dystrophy type 1. Care Considerations for congenital myotonic dystrophy and myotonic dystrophy type 2 will follow very shortly. Both the CDC and AAN are partners on the MDF Care Considerations project and are providing significant support to the project. MDF has also teamed up with Treat-NMD, Muscular Dystrophy UK and organizations in Canada and Western Europe to ensure that these guidelines are appropriate and targeted to patients in many different countries and care situations.

What’s Been Accomplished?

The project formally kicked off at the 2015 MDF Annual Conference, where MDF held a meeting with the international working group to provide an overview of the project scope, the consensus-development methodology, and study area assignments. Eight multi-system study areas were established, with committee chairs and working groups for each. Click here to see the full international list of Care Considerations study areas and Working Group participants.

MDF created and circulated to the working group a draft list of care recommendations developed from the MDF Toolkit and a short list of key published research. The expert clinicians then met via conference call and email, reviewing and editing the recommendations for their study areas over the course of the winter. MDF assembled an updated draft of care considerations with the edits included, and then brought all available working group members to Miami to discuss the revised document and work toward final recommendations and consensus. The meeting was a significant success, and MDF is now assembling the final draft document to circulate for a last round of reviews to the working group.

What’s Next?

The next steps for the DM Care Considerations project will be extensive and will involve multiple international partner organizations. Once the working group has agreed on the final list of care recommendations, MDF will develop executive summary and full versions of the document, as well as a draft publication for submission to a neurology journal. The full version will be submitted to professional associations of clinical professionals for open comment and to accreditation organizations in Western Europe, the U.K., Canada and the U.S. (AAN) to begin the final approval and dissemination process. Additional international organizations will be significant partners in distributing the final recommendations to care providers internationally.

MDF will also pursue an insurance policy document to help convince insurance companies in the U.S. to provide reimbursement for these care recommendations, and MDF has developed a draft update policy to ensure that these recommendations stay current. Finally, MDF will work with the working group and our international partners to develop and implement an assessment program to measure whether these recommendations are being used and are improving care for DM patients.

We plan to have final approved documents ready by the end of 2016. As always, MDF will keep you posted on this and our other research and care projects as we move forward. Questions? Contact MDF via email or phone at 415-800-7777.