The Pursuit of Progress

Through its fundraising, advocacy, health care services and support network, MDA helps make possible the everyday successes of its families and the lifesaving work of its researchers

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Here's a look at how MDA helps make possible the everyday successes of its families and the lifesaving work of its researchers.

by Quest Staff on October 30, 2014 - 9:15am

Quest Fall 2014

For people fighting neuromuscular disease,“progress” is a word that describes encouraging advances in the search for treatments and cures. But it’s also a word that evokes the forward-looking perspectives and remarkable life journeys of those living with these diseases who meet extraordinary challenges.  

When Emily Munson was a year old, her parents learned that she has type 2 spinal muscular atrophy (SMA). Doctors said she would need a type of back brace known as a body jacket, and they discussed the likelihood that she would eventually have to be treated for curvature of the spine (scoliosis).  

“Back then, people with SMA were called ‘floppy babies,’” Munson says. “My mom was the one to raise the issue of respiratory failure, and the doctor conceded that I was unlikely to die
of old age.”

That was 1985. Now, 30 years later, Munson is a successful attorney living in Indianapolis. Munson’s parents consider her “a product of modern medicine.” 

“My mom said, ‘Who would have thought that a kid that weighed 20 pounds for three years and needed round-the-clock breathing treatments would be where you are today?’” Munson adds.

But because of significant advances in research and clinical care, Munson — along with many others just like her — has been able to do things she wasn’t sure would have been possible 10 or 20 years ago. Munson went waterskiing a few years back and says it was “one of the most exciting moments of my life.” She has gone canoeing and riding in a hot air balloon. And she loves traveling and has written about her trips to Paris and Las Vegas on her blog on the MDA Transitions Center

As a successful attorney, Emily Munson hasn't let her type 2 SMA inhibit her personal progress. When not working, she also enjoys traveling to exotic locations, like Death Valley, Calif.

“When I watched the MDA telethon this year in particular, I was stunned by the research progress,” Munson says. “I saw someone with SMA climbing stairs when, before the drug trial, she could barely walk. It gives me hope that, in the future, my degeneration might be stopped.”

Redefining expectations 

With continued progress in research, health care services and legislative advocacy, MDA is helping people with neuromuscular disease meet, surpass — and even redefine — milestones in the fight against debilitating diseases such as SMA as well as ALS (amyotrophic lateral sclerosis), Duchenne muscular dystrophy (DMD) and others.

For Jaclyn Witt, who lives with central core disease, taking a 12-day cross-country trip was a personal milestone that she'll always remember.

Children and teens with what were once considered “pediatric” diseases are living longer and leading more fulfilling lives, making the transition into young adulthood. This simply would not be possible without the advancements in treatments and supportive care seen in recent years. Nor could it have happened without aid of the pathways opened up by MDA-led legislative advocacy efforts aimed at accelerating the speed of research and the regulatory process for new drug approvals. Young adults are pursuing expanded opportunities in higher education and employment. Some are having families of their own. That’s progress. 

As an example, take Jaclyn Witt, who received a diagnosis of central core disease (a disease that causes problems with the tone and contraction of skeletal muscles) at age 2. Witt works for a travel company in Southern California that operates motorcoach tours. Last year, she went on a 12-day trip that took her from Las Vegas to Utah, Wyoming and South Dakota. And she did it all by herself. 

“Growing up, I never thought I would be able to do something like that on my own. It was tiring physically, even just with getting on and off the motorcoach, but I was able to pace myself and recognize my limits and take breaks when I needed or sit out activities I couldn’t do. It’s something I consider to be one of my biggest achievements.”

A strong foundation 

Both the families affected by these diseases and the scientists conducting research are expressing a renewed optimism that new treatments and therapies — and someday cures — are closer than ever. 

Much of the progress that’s been made, and that continues to be made, is directly attributable to MDA’s research program. The program is based on a holistic approach, whereby researchers and scientists are pursuing the full spectrum of neuromuscular disease research on a global scale, from fundamental discoveries of the causes of disease to clinical trials of potential treatments. No stone is left unturned. 

“We have built a foundation for basic research and clinical care, upon which we’ve erected an infrastructure that is having a direct positive effect on the lives of the families we serve, and is pointing the way toward definitive medical solutions,” explains MDA Executive Vice President & Chief Medical and Scientific Officer Valerie Cwik, M.D. 

This basic MDA-driven research has and is laying the foundation for nearly all muscle disease research taking place today — including the great strides being made in drug development. MDA-supported research has resulted in many promising leads for therapy development, and MDA has programs exclusively focused on moving those therapies forward through the drug development pipeline. 

“I would not be here talking about muscular dystrophy research if MDA hadn’t given me my original training fellowship,” says Louis Kunkel, Ph.D., whose MDA-funded team discovered the DMD gene back in 1986. “They got me into this field.” 

The ultimate goal is disease-modifying therapies, and again MDA basic research has paved the way for progress.

Since the 1990s, MDA has been involved in the discovery and subsequent development of a therapeutic strategy called antisense, which aims to change the way cells process genetic instructions. The work has yielded some potentially disease-modifying treatments for DMD, SMA and myotonic muscular dystrophy (MMD or DM). Researchers also are seeing a lot of growth in other areas of genetic-based therapies such as gene therapy and stop codon read-through.

As another example, not long ago, the infantile-onset form of Pompe disease (also known as acid maltase deficiency) was a death sentence for babies and children — without acid maltase, a starch builds up in cells and destroys them — but all that changed when the treatment Myozyme was approved. MDA supported the basic research that eventually led to Myozyme, and today Myozyme also has a sister drug called Lumizyme, whose approval by the U.S. Food and Drug Administration was expanded to be used for treating people of all ages with Pompe disease. 

“MDA is determined to see this kind of lifesaving progress realized for all of the diseases in its program,” says Cwik.

From lab to living room

Today, early investment by MDA into basic research is paying off. 

“We are seeing the rewards of that investment from the 1980s and ’90s, and now we’re in the decade of therapy testing,” Kunkel notes. 

The discovery of the dystrophin gene, which when mutated causes DMD and the less severe Becker muscular dystrophy (BMD), prompted researchers to set their sights on treating or curing diseases by taking aim at the underlying causes. This was the genesis of major strategies in development today, including stop-codon read-through — which coaxes cells to ignore erroneous stop signals in genes for a muscle protein — and exon skipping — which coaxes cells to make a functional protein from a flawed gene. This has led to promising drugs being tested in human clinical trials today.

“MDA has been supporting my research at times when no one else would,” says Steve Wilton, an MDA-supported scientist who was a pioneer in research that helped lead to exon-skipping trials underway for DMD. “And that was because we were pushing the envelope.”

Another way MDA helps advance drug development is its translational research program, which funds early-stage drug development to move promising experimental therapies out of the lab and through the risky early stages of development. From that point, the hope is that larger biotechnology and pharmaceutical companies will commit to moving the drug through late-stage development and the regulatory process necessary for a treatment to be approved. In other words, this highly collaborative, multidisciplinary program moves potential new therapies from the lab to the living room, propelling today’s advances into tomorrow’s breakthrough successes.

Consider the fact that various international biomedical pharmaceutical companies now have: three disease-modifying treatments for DMD in late-stage clinical trials; one for SMA advancing into phase 3 study; and one for myotonic dystrophy type 1 (MMD1 or DM1) in phase 1 study. In each case, MDA funded early research that determined the foundational basis necessary to move forward with drug development. 

“In fact, MDA funded much of the early research in the 1990s and early 2000s that led to clinical development of these therapies being tested today,” Cwik says.

“When you go to lectures on neuromuscular disease, it is always reassuring to hear that research is moving down the pipeline and having clinical trials is not just on the horizon; it is here right now,” adds Dan Sedgemen, 28, of Minneapolis who was diagnosed with DMD at age 5. “Active clinical trials in humans were a dream when I was growing up. Mdx mice are nice, but people need treatments.” (Read From the Ground Up for more details on MDA-supported therapies in current clinical trials.)

Advances in care

Progress in the fight against muscle disease also is based in large part on MDA-supported successes in supportive treatments and improved clinical care.

For example, corticosteroids have been a cornerstone in the management of muscle diseases, including DMD and BMD. But these drugs have a lot of unwanted side effects. Right now, MDA is supporting development and testing of a kinder, gentler corticosteroid-like drug intended to reduce inflammation and scar tissue formation and promote regeneration in muscles affected by DMD. A drug like this could have broad application in several other diseases, including those under MDA’s umbrella. (To learn more, read Muscle Maintenance in Progress Now.)

In addition, MDA has been a part of groundbreaking work in the area of newborn screening, with potential applications to several of the diseases in the MDA program, including DMD and SMA. Newborn screening is the widespread practice of screening babies for certain diseases that can be detected at birth, and in which an early treatment or intervention is available and definitively linked with better outcomes. With potential new therapies on the horizon for DMD and SMA, it’s important to lay the groundwork for seamless implementation of newborn screening programs that will make it possible for babies born with these diseases to receive treatment right away — even before the onset of symptoms. 

At this time, MDA is continuing to round up congressional support for passage of the Newborn Screening Saves Lives Reauthorization Act, which will reauthorize critical federal programs that provide assistance to states to improve and expand their newborn screening programs, support parent and provider education, and ensure laboratory quality and surveillance for newborn screening. 

Research into rare diseases like those covered by MDA is a marathon, not a sprint, and MDA-supported scientists continue to make great strides in developing drugs and therapies that may soon hold the key to begin eliminating the harmful effects of muscle disease. And MDA continues its efforts to advocate for speeding the development of drugs and helping to refine the regulatory process. (Read The FDA Approval Process: Can We Have This Drug Now? in the Summer 2014 issue.)

“[New drug treatments] are either in early testing phases or beginning testing, and some of them have the potential to affect people’s lives in ways that are more dramatic than anything we have had to offer previously,” says Charles Thornton, a professor of neurology at the University of Rochester (N.Y.) and a physician in the MDA clinic at that location. 

More work ahead

MDA researchers, clinicians, families and staff have made remarkable progress already, gaining momentum on multiple fronts — beyond groundbreaking research, clinical and support services continue to improve, and effective advocacy efforts are resulting in public policy changes, and community involvement is on the rise — but MDA is not there yet.

“It’s more crucial now to donate to MDA for research because the research and the science that is available currently is outstanding, unprecedented and has never been available before,” says Alison Willis of Fayetteville, N.Y., mother to twin boys with DMD who participated in a clinical trial for the disease. “So if there has ever been a time when there has been the most hope for people with muscular dystrophy, that time is now.”

Progress can lead to momentous changes. It also can inspire hope for something as simple as a hug, given by one family member to another.

“Developments that may help my sister and me increase our abilities and independence would be appreciated and put to good use,” says Emily Munson. “I half-joke with her that if one of us is ever able to gain muscle, the first thing she has to do is give the other one a hug.”

There has never been a more hopeful time, and MDA is making sure progress continues to race ahead until the fight is won. 

Through early-stage research funding, MDA has helped bring several drugs to clinical trials:

  • Isis Pharmaceuticals is developing ISIS-SMNRx, a drug for infants and children with spinal muscular atrophy (SMA). The experimental drug has entered a phase 3 study, based on encouraging results in two earlier phase 2 studies.
  • In a phase 1 study, Isis Pharmaceuticals is developing ISIS-DMPKRx, the first drug of its kind to target the underlying genetic defect that causes type 1 myotonic dystrophy (MMD1 or DM1), the most common form of muscular dystrophy in adults.
  • Drisapersen, developed by the biotech firm Prosensa, is a drug currently in late-stage development for DMD. It is based on exon skipping, which encourages protein-making machinery to skip over a section of genetic instructions so that a short, but functional, muscle protein can be made. 
  • Eteplirsen, developed by Sarepta Therapeutics and also an exon-skipping drug for DMD, is now in a phase 3 trial to evaluate the effectiveness and safety of the drug in treating DMD.
  • PTC Therapeutics’ experimental drug ataluren, for boys with DMD or BMD, is in a phase 3 trial for Duchenne and Becker MD. Ataluren is an experimental compound that coaxes protein-making machinery to ignore abnormal “stop signals” in genes encoded to make a muscle protein.
  • Akashi Therapeutics’ (formerly Halo) experimental drug HT-100, for boys with DMD, works to reduce inflammation and scar tissue formation and promote muscle regeneration. It’s in a phase 1b/2a clinical trial.

For more research and clinical trial updates, read Progress Now.

The battle against muscle disease still has many new milestones ahead, but it also has achieved much during the years. 

  • Last year, 100,000-plus Americans turned to MDA for support.
  • MDA’s nearly 200 clinics, 44 of which are designated MDA/ALS centers, are home to the most advanced research and treatment methods and often serve as sites for clinical trials of the latest experimental therapies.
  • In 2014, MDA is funding about 250 research projects in 12 countries; a typical MDA grant is $300,000.
  • MDA has dedicated almost $325 million to ALS research and health care services, and currently supports nearly 50 ALS research projects worldwide with a total commitment of $15 million.
  • More neuromuscular-related clinical trials are underway today than ever, and there are more new muscle disease-related drugs expected to be in development in the next five years than in the previous five decades. 
  • MDA’s fastest-growing support program provides resources for kids living with muscle disease as they transition into adulthood and pursue higher education, employment and independent living.
  • MDA-led advocacy efforts make legislators and policymakers aware of important issues that affect people with muscle disease so they can make better decisions about public policy, research investments and the development of new drugs and treatments.

As yet another sign of progress, the MD-CARE Act (or Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments Act), was signed into law by President Obama on Sept. 26. For more on how the Act benefits the MDA community, read A Landmark Victory in Access MDA.  


Beyond direct research support, MDA fuels progress for its families through its network of clinics nationwide and the support of its Transitions program

From the moment someone is diagnosed, MDA is here to help that person and his or her family find stability and support.

That process starts with MDA’s national network of specialized clinics, where individuals and families receive comprehensive care from health professionals who are skilled in the diagnosis and medical management of neuromuscular diseases. And with better medicine and clinical treatments creating longer life spans for such individuals, they also benefit from MDA’s Transitions program, which offers services for and advocates on behalf of young adults with disabilities who face obstacles related to their care and academic and professional lives as they transition into adulthood.  

The backbone of MDA: The local clinic

To help aid in the fight against muscle disease, MDA has nearly 200 specialized clinics in leading hospitals and health care facilities across the United States and in Puerto Rico to directly serve, support and empower MDA families.

“[MDA clinic] gives me an opportunity to follow up with the physicians that have been with me with my diagnosis,” says Dan Sedgeman, 28, of Minneapolis, who was diagnosed with Duchenne muscular dystrophy (DMD) at age 5. “I would not be here today without the resources that were given to me at MDA clinic, especially with the technology available to my pulmonologist. The advent of BiPAP, the Vest [airway clearance system) and Cough-Assist technologies are lifesavers.”

People with neuromuscular disorders who visit MDA clinics can see specialists who provide life-prolonging and life-enhancing cardiac and respiratory care, as well as spine-straightening surgery to improve function and mobility, and medications like corticosteroids to maintain or increase muscle function.

The clinics are the backbone of MDA’s program, explains John W. Day, M.D., Ph.D., professor of Neurology & Neurological Sciences, and director of the Stanford Neuromuscular Disorders Program and affiliated MDA clinic director at Stanford University in California.

“Our clinics consolidate the neuromuscular patient community into a single location, so we can efficiently provide comprehensive care,” he adds. “We understand that these are multisystemic diseases, so we have the experts under one roof — the cardiologist, nutritionist, pulmonologists, endocrinologist, physical, occupational and speech therapists, respiratory therapists, genetic counselors — everyone a patient needs to see, and all focused on neuromuscular diseases.”

“MDA has been a great support to our family,” says Jenny Imhoff of New Berlin, Wis., whose daughter Reagan has spinal muscular atrophy and serves as MDA’s National Goodwill Ambassador. “It's so wonderful to be able to go to clinic and see all the different doctors, all the different specialties, the therapist, the rehab, the nurses, nutritionists, everything, you see them in one day instead making 10 different appointments,” she says, echoing Day’s point.

Many of the MDA clinics are located in university-affiliated hospitals, and often MDA clinic directors serve double-duty, as university medical school professors and practicing physicians. Today, MDA clinics are recognized as leaders in neuromuscular disease research and treatment methods.

Many MDA clinics also serve as pre-eminent clinical trial sites for emerging experimental therapies, bringing therapy development and disease management under one roof.

“We are involved in research — we’re very focused on research,” Day says. “But we’re also focused on optimizing the care of patients right now in clinic today, so that they can achieve as much as possible.  And there’ve been marked improvements in what we can do with patients today while we’re waiting for those definitive cures.”

In order to optimize the care provided at MDA clinics, Day emphasizes the importance of the MDA clinic setting and how it facilitates efforts to bring more doctors and other health care providers into the neuromuscular field.

“This environment allows us to effectively recruit more clinicians into the field,” Day notes. “If you’re going to choose a specialty, you need to see enough patients, be involved in preliminary research, stay on top of novel treatment approaches as well as advanced research and study the diseases over a reasonable period of time. Because our clinics offer these opportunities, we can set up effective training programs that attract medical students, neurology residents and neuromuscular fellows. Here they can fully learn how to diagnose as well as manage and treat patients with neuromuscular disease. We’re not only improving current management methods but also preparing the next generation of neuromuscular disease specialists.”

MDA’s nationwide network of nearly 200 clinics, 44 of which are designated MDA/ALS centers, is the largest of its kind in the country. Last year, MDA clinics cared for nearly 40,000 people with muscle diseases.

“It really is that solid foundation of support for those of us with MD,” says Jaclyn Witt, who was diagnosed with central core disease at age 2. “I know without the help of the doctors at the MDA clinic that my parents wouldn't have known to put me in physical therapy right away., and I may not be as physically strong and independent as I am today. Being able to see the same doctors up through college was such a blessing, too. They didn't just know my medical history, they got to see me grow up and progress.”

In conjunction with MDA’s clinics nationwide, the MDA U.S. Neuromuscular Disease Registry and its Clinical Research Networks for ALS, DMD and myotonic muscular dystrophy play a critical role in fueling breakthroughs in muscle disease research and innovations in clinical care.

Emily Munson, who lives with type 2 spinal muscular atrophy (SMA) and is a member of MDA’s Registry Advisory Board, says the focus needs to stay on improving the quality of life for people who have neuromuscular disorders. “Brilliant and dedicated people, both inside and outside of MDA, are working to compile statistics on individuals currently living with certain conditions under the MDA umbrella,” she adds. “Through this initiative, we can develop best practices and remove some time involved in the lengthy drug trial process.”

A guiding hand: MDA’s Transitions program

Through research advances and clinical progress, enabled in part by MDA, individuals living with neuromuscular diseases are experiencing increased life spans and more children and teens are transitioning to adulthood than ever before. However, that success brings a need to help these young individuals meet new challenges associated with adulthood. Those challenges may include planning as early as possible for the transition from high school to postsecondary education or employment, as well as transitioning from pediatric to adult medical care.

Through its Transitions program, MDA has partnered with federal agencies and other groups serving young adults with disabilities to address barriers affecting education, employment, health care and independence, as well as to advocate for changes in public policy to ease the transition.

For example, Munson is pleased that there is a growing number of individuals with neuromuscular conditions who are able to gain employment and independence. But the rate of growth isn’t happening fast enough, she says, because there are many bureaucratic barriers making it difficult for individuals who need long-term care to transition to independence or to gain financial independence.

Munson also says that becoming a better advocate for her needs has had a significant impact on her quality of life. “I remember sitting in high school, terrified to ask the classmate next to me to reach into my bag and pull out a binder. In college, I couldn't rely upon my parents or the special-ed teacher to speak on my behalf; instead, I had to build my own support network and develop my voice,” she says.

“Many people with disabilities suffer from low expectations and are unaware of the accomplishments fellow members of the disability community have made,” Munson says. “My hope is that the MDA Transitions program will demonstrate to youth that their wildest aspirations can be achieved.”

Jaclyn Witt, who also blogs for the MDA Transitions website, explains that she has struggled with feeling isolated from her peers.

“I didn't know anyone else with muscular dystrophy, but I especially didn't know anyone with central core. It sounds silly now, but back then, I felt like I was the only one in the world with this disease and that no one could possibly understand what I was going through. I was very shy and very guarded for a very long time. I may be 30 now, but the MDA Transitions site still helps me on almost a daily basis.”

“It's an immense relief to read that others all over the world feel the same way I do and have the exact same struggles. It can't really even be put into words what it's like to know that you're not alone.”

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