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Progress Now Winter 2017

ALS (amyotrophic lateral sclerosis)

Edaravone Under Review: Drug targets the oxidative stress pathway 

Osaka-based Mitsubishi Tanabe Pharma’s new drug application for the drug edaravone (brand name Radicava) to treat people with ALS has been accepted by the U.S. Food and Drug Administration (FDA).

An FDA decision on the drug is expected by June 16, 2017. Edaravone was approved last year in Japan and South Korea for the treatment of ALS and has been approved for the treatment of stroke since 2001. 

Edaravone is thought to work by relieving the effects of oxidative stress, which has been suspected to play a role in the death of motor neurons in people with ALS. (Oxidative stress is an imbalance between the production of free radicals and the ability of the body to counteract or detoxify their harmful effects with antioxidants.) Targeting this pathway could potentially preserve motor neuron health, which could, in turn, keep muscles functional for a longer period of time.

MDA has supported research investigating the role of oxidative stress in ALS and other neuromuscular disorders as well as therapeutic approaches to combat the damage caused by free radicals.

To read about MDA’s current ALS-related research efforts, visit

Nutrition and ALS: COSMOS study results suggest a healthy diet could have positive benefits on overall function 

Although ALS can be caused by genetic factors, there is growing interest in the potential influence of the environment and nutrition in ALS disease progression. Now, results from a study called COSMOS, conducted in 302 people with ALS, suggest that intake of antioxidants, carotenes, fruits and vegetables are associated with improved function at the time of diagnosis, and indicate that people with the disease should strive toward fruit and vegetable consumption when possible.

Consumption of these foods is predicted to combat a process called oxidative stress, which is thought to play a role in ALS.

The results yield important insights into the best care for people currently living with ALS, with the suggestion that a healthy diet may improve ALS patient function. In addition, they build on the body of evidence showing the importance of the nutritional care of ALS patients.  

COSMOS was supported by the National Institutes of Health and by MDA through its Wings Over Wall Street gala event fundraiser. 

To read about MDA’s current ALS-related research efforts, visit

MDA and Target ALS Foundation Form Partnership: Aim is to advance research and therapy development for ALS  

MDA and Target ALS Foundation have announced a partnership aimed at supporting talented, young scientists who choose to pursue careers devoted to ALS research.

Through its discovery research program, MDA awards Development Grants to promising young postdoctoral fellows who are making the transition toward independent academic careers. These awards provide fellows with the support they need to craft and execute independent research projects that can boost their careers to the next level. 

Target ALS has launched core facilities that enable ALS researchers access to human postmortem tissue, human stem cells and viral vectors (delivery vehicles for therapeutic genes). Access to tissue and stem cells from human patients is critical to allow researchers to compare laboratory findings from culture or rodent models to the pathological mechanisms that occur in the human disease. As part of the collaborative effort to support young ALS investigators, Target ALS will extend access to its core facilities to MDA’s development grantees focused on ALS research.

Importantly, the partnership will help to fill both the therapy development pipeline and the need for talented researchers in the ALS field. 

To read about MDA’s current ALS-related research efforts, visit

ALS Study Seeks Participants: Trial will test whether NP001 slows disease progression 

Researchers are looking for people to participate in a phase 2 clinical trial designed to test whether the investigational drug NP001 slows progression of signs and symptoms in ALS. 

Data from some studies suggests that in people with ALS there are increased levels of inflammatory (activated) macrophages, a type of white blood cell, resulting in the release of factors that damage motor neurons. NP001, a regulator of macrophage activation, is designed to exert its effect by converting these activated inflammatory macrophages back to their normal state.

Study investigators will measure the change from baseline in score on the ALS Functional Rating Scale-Revised, a scale that enables physicians to evaluate an ALS patient’s degree of functional impairment.

Trial participants will receive either treatment with NP001 or placebo and will be required to visit the study site 23 times over the course of the study. 

Trial sites are located in Arizona, California, Florida, Kansas, Kentucky, Massachusetts, North Carolina, Oregon and Texas. Travel support may be available.

For more information about this trial, including complete inclusion and exclusion criteria, please visit and enter NCT02794857 into the search box, or see

Duchenne muscular dystrophy (DMD)

Participants Needed: Exercise Study

Researchers are seeking boys ages 7–9 years with DMD to participate in a trial designed to assess the safety and feasibility of a home-based exercise program.

Prior studies in milder forms of muscular dystrophy and in rodent models suggest that resistance exercise may have beneficial effects for maintenance of muscle mass in DMD, but data on the safety and potential benefits of exercise in people who have DMD is lacking.

The study will last one to two weeks. All testing sessions and exams will be performed at the trial site at the University of Florida in Gainesville. Three to six clinic visits over the one- to two-week testing period will include strength and exercise testing, along with imaging tests and a blood draw.  

In order to participate, boys must be able to walk independently for at least 100 meters and climb four stairs. In addition, they must currently be receiving a form of corticosteroid treatment and meet additional criteria.

Travel and hotel accommodations will be provided for those who must travel to the test site for clinic visits. 

To learn more or to inquire about participation, please contact Donovan Lott at or 352-273-9226. You also can find more information about the study by going to and entering NCT02421523 into the search box.

Vamorolone Trial Volunteers Needed: Study will test dissociative steroid in boys with DMD

Volunteers are needed to participate in a clinical trial sponsored by ReveraGen BioPharma to test the safety and effectiveness of the investigational drug vamorolone in boys with DMD.

Vamorolone, a “dissociative steroid,” is an anti-inflammatory compound that researchers hope will convey the same benefits of traditional glucocorticoids, such as prednisone and deflazacort, without the unwanted side effects — including stunted growth, insulin resistance and weight gain — of those drugs.

In the two-part, open-label study, all participants will receive treatment with vamorolone. Study investigators will assess whether the drug has positive effects on muscle strength and timed function tests. 

Boys ages 4–6 years old with a confirmed genetic diagnosis of DMD and who meet additional criteria may be eligible to participate.

This study is recruiting at sites across the United States and Canada, and travel and hotel accommodations will be provided for those who must travel to a test site for clinic visits. 

Two MDA Venture Philanthropy (MVP) grants totaling $1.9 million to ReveraGen supported preclinical development and validation of the drug, and another MVP grant for $1 million supported the phase 1 clinical trial to evaluate safety and tolerability in healthy adult volunteers. 

To learn more or to inquire about participation, contact Andrea Smith at You also can find more information on the study by visiting and typing “vamorolone” in the search box. For additional information on travel and accommodations, contact Suzanne Gaglianone at

MissionDMD Trial Seeks Participants: Study will test FG-3019 in boys and men with DMD

Researchers are looking for boys and men, ages 12 years and older, to participate in the phase 2 MissionDMD clinical trial, sponsored by FibroGen, to test the experimental drug FG-3019 (pamrevlumab) in DMD.

FG-3019 is designed to block the activity of a protein called connective tissue growth factor, which is hypothesized to contribute to fibrosis (scarring) in DMD. Researchers will assess whether treatment with the drug reduces fibrosis in skeletal and cardiac muscle and leads to improved function in the arms and legs, breathing muscles, and heart.

All MissionDMD participants will receive treatment with FG-3019. They must attend clinic visits every two weeks for a period of two years. During clinic visits, they may undergo muscle function testing, lung function testing and Magnetic Resonance Imaging (MRI), and they may have blood drawn.

Participants must be nonambulatory (unable to walk), have a genetically confirmed diagnosis of DMD and meet additional criteria. 

The study is being conducted at nine trial sites in the United States, and participants are eligible for reimbursement for some costs related to travel and overnight lodging associated with clinic visits. 

For more information about this trial, including trial site locations and complete eligibility criteria, please visit and enter NCT02606136 into the search box. If you or someone you know may be interested in participating in this trial, contact Gustavo Lorente at 415-978-1441 or

First Appeal for FDA to Review Translarna Denied: PTC Therapeutics will appeal decision

The U.S. Food and Drug Administration (FDA) has denied PTC Therapeutics’ first appeal that a New Drug Application (NDA) for ataluren (brand name Translarna) to treat some forms of DMD be accepted and that the FDA conduct a full review of the drug.

A “read-through” drug, Translarna is designed to act by changing the way muscle cells interpret genetic information, coaxing them to produce a needed muscle protein called dystrophin.

PTC completed submission of its NDA to market Translarna in the U.S. in January 2016, but in February received a Refuse to File letter from the FDA stating that the application was not sufficient to permit a review. PTC submitted an appeal in July to escalate continuing discussions with the FDA about a path toward approval for the drug.

The appeal now moves to the next supervisory level of the FDA as part of a process that may include multiple cycles of appeals to progressively higher levels of the regulatory agency.  

In addition to having funded foundational work in DMD, MDA has contributed nearly $3 million toward Translarna’s development and phase 2 clinical testing.

Visit for more about PTC Therapeutics’ development of Translarna to treat DMD.

Myasthenia gravis (MG)

MG Drug Receives Orphan Drug Status: Amifampridine phosphate may benefit other diseases in MDA’s program

The investigational drug amifampridine phosphate, under development by Catalyst Pharmaceuticals, has received U.S. Food and Drug Administration (FDA) orphan drug designation for the treatment of myasthenia gravis (MG).

Amifampridine phosphate is a potassium channel inhibitor designed to prolong signals released from nerves and allow greater stimulation of muscles. The drug currently is under clinical investigation as a symptomatic therapy to treat muscle weakness in people with MuSK-antibody positive myasthenia gravis. It also has shown promising results in a phase 3 trial that tested it in people with Lambert-Eaton myasthenic syndrome (LEMS), and currently is under investigation as a treatment for children with congenital myasthenic syndromes (CMS).

FDA’s orphan drug designation qualifies the sponsor of the drug for various development incentives, including tax credits for qualified clinical testing. 

MDA has supported previous studies of amifampridine phosphate in children with CMS.

For more about Catalyst Pharmaceuticals’ development of amifampridine phosphate to treat neuromuscular diseases, visit

Thymectomy in MG: Surgery to remove the thymus gland a validated treatment

In an MDA-supported worldwide study, researchers found that thymectomy (surgical removal of an organ called the thymus) reduced muscle weakness and lowered the need for drugs that suppress the immune system in people with MG. 

In the trial, which was conducted in 67 centers across 18 countries, 126 participants between the ages of 18 and 65 years were treated either with surgery and prednisone (an immunosuppressant steroid) or with prednisone alone. 

Trial investigators found that the combination of surgery and prednisone treatment reduced overall muscle weakness more than the prednisone-only treatment. 

The researchers also found that, when compared with participants who were treated only with prednisone, participants who had surgery:
• required lower daily doses of prednisone to control the disease;
• had less need for additional immunosuppressant drugs; and
• experienced fewer adverse events (such as hospitalization).

The results from this trial will help inform clinicians and patients about the potential benefits of surgery for MG and lead to improvements in care for people with the disease.

To learn more about MDA’s current MG research efforts, visit

RYR-1 myopathies

MDA Partners with RYR-1 Foundation: Alliance will advance research and clinical care for RYR-1-related myopathies 

MDA and RYR-1 Foundation have announced a partnership aimed at advancing research and clinical care, raising awareness, and improving education of patients, medical professionals and the public about RYR-1-related myopathies. 

The partnership represents a key step in MDA’s commitment to form collaborative relationships with other organizations working on the same diseases MDA covers.  

Central core disease, centronuclear myopathy, multiminicore myopathy and other diseases caused by a mutation in the ryanodine receptor (RYR-1) are among the neuromuscular diseases MDA fights as an umbrella organization.

Partnership goals include working together to enhance the quality, quantity and scope of basic, translational and clinical research; bolstering the scientific review process; and increasing collaboration among investigators.  

To read about MDA’s current RYR-1-related research efforts, see a list of our current grants at

Spinal muscular atrophy (SMA)

Nusinersen (Spinraza) Approved: SMA drug could help all ages, all forms of SMA

Biogen and Ionis Pharmaceuticals announced Dec. 23, 2016, that the U.S. Food and Drug Administration (FDA) has approved nusinersen (brand name Spinraza) for the treatment of SMA. 

Spinraza has been tested both in blinded and open-label studies, and in patients with types 1, 2 and 3 SMA. Interim results from the late-stage ENDEAR trial in infants with type 1 SMA demonstrated strong evidence for efficacy, prompting premature closure of the placebo-controlled trial in order to transition all participants to the open-label SHINE trial, in which all babies receive treatment with the drug. Similar early results were noted in the phase 3 CHERISH trial to test Spinraza in children with the type 2 form of the disease. As with ENDEAR, the CHERISH trial was stopped to allow participants to join the open-label study.

Spinraza is a disease- modifying antisense drug, one of a class of experimental therapeutic molecules designed to target genetic instructions at the RNA stage (an intermediate step between DNA and the protein manufacturing stage inside cells). It is designed to increase production of the needed SMN protein.

MDA has funded foundational work in SMA and supported Adrian Krainer at Cold Spring Harbor Laboratory in New York for early-stage development of Spinraza. 

FDA approval of Spinraza allows for widespread access to the drug for kids and adults with SMA across the United States and makes the drug the first FDA-approved treatment for the life-threatening disease.

Visit for updates and to learn more about how to access Spinraza. Read to learn more.

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