Progress Now Spring 2017

Tracking research updates and breakthroughs that help accelerate treatments and cures across MDA diseases

Clinical Trials Finder Tool

ALS (amyotrophic lateral sclerosis)

Participate in a Home-Based ALS Trial: Trial will assess whether disease progression can be reliably measured at home

Researchers are looking for 220 people with ALS and 30 people who do not have ALS from around the country to participate in the ALS AT HOME (ALS Testing through Home-Based Outcome Measures) study. 

The aim of the study is to assess whether ALS patients can reliably measure disease progression from home, with the goal of changing the way clinical trials for ALS are performed. The hope is to be able to reduce the number of patients that have to be enrolled in a trial in order to reduce the length of the testing process. In addition, if the study shows that individuals with ALS are able to reliably measure their disease at home, future trials could be designed to include patients who do not live near a study center.

During the study, participants with ALS will actively track the progression of their disease from their homes (there are no clinic visits associated with the study) and will fill out intermittent surveys about their experience in the study and their ability to perform daily tasks.

With or without the help of a caregiver, participating subjects will perform measurements on themselves and record data every day for the first three months, and then twice a week for the next six months. Measurements include breathing function, hand strength, muscle quality and activity level. Equipment, as well as training in how to use it, will be provided. 

To be eligible to participate, individuals must be ages 18 to 85, own a smart device (phone, tablet, etc.) with Bluetooth capability, have continuous internet access at home and meet additional eligibility criteria.

If you are interested in participating, contact study coordinator Kerisa Shelton at 602-406-6598, or visit and enter NCT03016897 in the search box to learn more. 

C9ORF72 ALS Study Seeks Participantsn Improved understanding of the C9 form of ALS could lead to development of treatments

Researchers are looking for people to participate in a research study aimed at better understanding the specific form of ALS caused by a mutation in the gene for C9ORF72.

It’s hoped that the in-depth study of patients with the C9ORF72 mutation will ultimately help in the development of treatments for this common form of ALS. 

Trial participants will have as many as nine in-person visits and five telephone interviews over a period of three years. For those who live near the trial sites, each in-person visit may be tied to a regular clinic visit. For those who live out of town, one initial visit can be set up with all other visits performed via a telephone call and medical records review.

Investigators will assess clinical data to determine rates of disease progression and whether they correlate with the length of the DNA expansion in C9ORF72. Blood and optional cerebral spinal fluid samples that are collected also will be analyzed along with clinical measures.

Participants must be age 18 or older, have ALS with a confirmed C9ORF72 mutation and meet other eligibility requirements.

If you are interested in participating, call 314-362-6159 or email Visit and enter NCT02686268 in the search box to learn more.

Encouraging Data Reported for Radicava: Experimental ALS drug is under FDA review

Osaka-based Mitsubishi Tanabe Pharma has reported encouraging 12-month efficacy and safety data for edaravone (brand name Radicava) for the treatment of ALS. Radicava is thought to work by relieving the effects of oxidative stress (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.

Data showed that in the 48-week study, trial participants who were treated with Radicava in 10- to 14-day cycles for the full 48 weeks experienced significantly less functional loss when compared with those who received a placebo for the first 24 weeks, as measured by the ALS Functional Rating Scale-Revised (ALSFRS-R). 

Mitsubishi Tanabe submitted a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) in June 2016, seeking approval for Radicava to treat people with ALS. A decision on the NDA is expected by June 16, 2017. 

Learn more about MDA’s current ALS-related research efforts on our grant search page.

Congenital myasthenic syndromes (CMS)

CMS Study Seeks Participants: Trial will assess whether amifampridine phosphate may be an effective treatment

Researchers are looking for people with CMS to participate in a phase 3 study, being conducted by Catalyst Pharmaceuticals, to test the experimental drug amifampridine phosphate.

A potassium channel inhibitor, amifampridine phosphate is designed to cause greater stimulation of muscle by prolonging nerve signals and is expected to help treat muscle weakness in people with CMS. 

Study participants will receive an initial evaluation and several clinical exams and, after study completion, will be eligible for an expanded access program in which they will be able to continue to receive treatment with the drug. 

Participants may be male or female, age 2 or older, with a genetically confirmed CMS mutation. Those whose CMS has not been genetically confirmed will have genetic testing done at screening, and additional eligibility criteria will be reviewed with each patient’s physician. 

Trial sites are located in California, Georgia, Maryland, Massachusetts and Ohio. Travel-related costs will be provided for those who are willing to travel.

MDA has supported the development of amifampridine phosphate for children with CMS. 

For additional information, visit and enter NCT02562066 in the search box. If you are interested in participating in the study, call 844-347-3277 or email  

Duchenne muscular dystrophy (DMD)

FDA Approves Emflaza: A corticosteroid, Emflaza could preserve strength in people with DMD

In February, the U.S. Food and Drug Administration (FDA) approved Marathon Pharmaceuticals’ new drug applications for deflazacort (brand name Emflaza) to treat DMD in individuals age 5 or older, regardless of mutation. Emflaza, a corticosteroid, works as an anti-inflammatory and immunosuppressant. 

Treatment with Emflaza will not cure DMD, but in studies the drug has been shown to slow the loss of muscle strength and function, preserve cardiac and respiratory function, and reduce the incidence of scoliosis (curvature of the spine) in people with the disease. Importantly, the unwanted side effects often experienced with corticosteroids, such as weight gain, loss of bone mass, glucose intolerance (diabetes) and behavioral issues, may be less severe with Emflaza as compared to other steroids.

FDA approval of the two new drug applications, one for an immediate-release tablet form of the treatment and one for an oral-suspension (syrup) formulation, will now allow widespread access to Emflaza for kids and adults with DMD across the United States and make the drug among the first FDA-approved treatments for DMD.

MDA has a long history of supporting research and clinical study into the effects of corticosteroids, including Emflaza, on DMD, with studies to determine drug effects, mechanism of action, side effects and best dosing regimen. 

At press time, Marathon announced it had reached an agreement for PTC Therapeutics to acquire and commercialize Emflaza. There was no word on how soon PTC which is developing another drug, Translarna, for DMD — will make Emflaza available or what the drug will cost.

To find out more, visit, and read MDA’s Strongly blog post for more details.

Participants Sought for SIDEROS Trial: Study will assess the effects of Raxone on respiratory function

Researchers are looking for boys and men age 10 or older with DMD to participate in a phase 3 clinical trial.

The study, called SIDEROS, is designed to help researchers determine the safety and efficacy of idebenone (brand name Raxone), an experimental drug in development to treat DMD by Santhera Pharmaceuticals. 

SIDEROS will assess whether Raxone, which scientists hypothesize may work by improving the way muscles utilize fuel to power movement, will slow decline in respiratory function.

Study participants will be assigned randomly to groups that will receive either Raxone or placebo. After completing the study, all participants will have the opportunity to enroll in an open-label extension study in which everyone will receive treatment with the drug. 

The study will last 22 months, and during that time participants will be required to make nine clinic visits at three-month intervals. These visits will include a series of lung function tests to determine changes in lung capacity. 

Trial sites are located in Alabama, Arizona, Arkansas, Florida, Indiana, Kansas, Maryland, Minnesota, Pennsylvania, Tennessee and Utah, with additional sites expected to open soon. Assistance is available for travel and hotel accommodations.

Visit for more information about travel and accommodations support. To inquire about participation, email Learn more at or visit and enter NCT02814019 in the search box. 

Facioscapulohumeral muscular dystrophy (FSHD)

Participants Sought for FSHD Study: Study will evaluate the safety, tolerability and efficacy of ACE-083 

Researchers are looking for people with FSHD to participate in a phase 2 clinical trial, being conducted by Acceleron Pharma, to evaluate the safety, tolerability and efficacy of ACE-083.

Administered via intramuscular injection, ACE-083 is designed to increase muscle size and strength specifically in the muscles into which the drug is administered. 

The study will take place in two parts, the first of which is a dose-escalation study to evaluate the safety and tolerability of ACE-083 in up to 36 FSHD patients. In the second part of the study, investigators will assess whether treatment with the drug increases muscle size, strength
and function. 

Travel expenses for mileage, tolls and parking will be covered. Depending on distance to the site, participants also may be covered for overnight hotel stays.

Participants must be age 18 or older, have genetically confirmed FSHD, or have a clinical diagnosis of FSHD and a first-degree relative with genetically confirmed FSHD, and meet additional criteria. 

MDA is not involved with this trial but has supported foundational research in FSHD with an investment since inception of more than $22 million.  

For additional information, including complete eligibility criteria, visit and enter NCT02927080 in the search box. If you are interested in participating in the study, email  

Friedreich’s ataxia (FA)

Disappointing Results in STEADFAST Trial: Treatment with Actimmune was not associated with any clinical benefit  

Results from the STEADFAST phase 3 clinical trial in FA failed to show that the drug interferon gamma-1b (brand name Actimmune) was effective as assessed by any of the study’s disease measurements. 

Actimmune, which was under development by Horizon Pharma, is a biologically manufactured protein similar to one the body makes naturally to help prevent infection.

The study tested whether Actimmune would slow disease progression, as measured by a functional rating scale assessing capacities such as speech, ability to swallow, upper and lower limb coordination, gait and posture. However, results after 26 weeks did not demonstrate a statistically significant change from baseline between those who received the drug and those who did not. No new safety findings were identified. 

Based on the trial results, Horizon has decided to discontinue further development of Actimmune for FA. 

Learn more about MDA’s current FA-related research efforts on our grants search page.

Lambert-Eaton myasthenic syndrome (LEMS)

FirST-4-LEMS Study Seeks Participants: Trial will test effectiveness of amifampridine phosphate in controlling, reducing and/or eliminating symptoms of LEMS

Researchers are looking for people with LEMS to participate in a phase 3 clinical trial, being conducted by Catalyst Pharmaceuticals, to test the investigational drug amifampridine phosphate. 

The Firdapse Strength Trial for LEMS, or FirST-4-LEMS, study is designed to evaluate the effectiveness of the drug in controlling, reducing and/or eliminating LEMS symptoms.

Amifampridine phosphate is a potassium channel inhibitor designed to prolong signals released from nerves and allow greater stimulation of muscles. 

The study, which will last at least five and up to 12 days, will evaluate the effects of withdrawing amifampridine phosphate treatment from people with LEMS who currently are taking the drug. 

Trial sites are located in Miami and Los Angeles. All treatment and participation costs (travel, hotel, meals, etc.) are covered.

Participants must be age 18 or older, have a confirmed diagnosis of LEMS, currently be receiving treatment with amifampridine phosphate and meet additional criteria. 

For additional information on this trial, including complete eligibility criteria, visit and enter NCT02970162 in the search box. If you are interested in participating in the study, call 844-347-3277.

Limb-girdle muscular dystrophy (LGMD)

Resolaris Granted Fast Track Designation: Fast Track process facilitates development and expedites review

The U.S. Food and Drug Administration (FDA) has granted Fast Track designation to aTyr Pharma’s experimental drug Resolaris for the treatment of LGMD2B.  

Resolaris, which also is being developed to treat facioscapulohumeral muscular dystrophy, is derived from a naturally occurring protein released by human skeletal muscle cells. It potentially may provide therapeutic benefit to people affected by rare myopathies with excessive immune cell involvement — including LGMD2B patients, who experience progressive debilitating muscle weakness and atrophy as well as immune cell invasion in the skeletal muscle. 

In early-stage tests, the drug has demonstrated a favorable safety profile as well as encouraging signs that it may have positive effects on muscle function.

Fast Track designation is granted by the FDA to facilitate development and accelerate the regulatory review process. It may be granted when a treatment would affect a serious condition where there is an unmet medical need, as with LGMD2B. 

MDA has funded research on the role of dysferlin mutations in LGMD2B and other neuromuscular disorders since the late 1990s. 

You can learn more about Fast Track designation on the FDA's website.

Myasthenia gravis (MG)

Alexion Seeks FDA Approval of Soliris to Treat MG: Study results have demonstrated clinically meaningful improvements in patients treated with Soliris 

Alexion Pharmaceuticals has submitted a marketing application to the U.S. Food and Drug Administration (FDA) for the investigational drug eculizumab (brand name Soliris) to treat people with refractory generalized MG.

A terminal complement inhibitor, Soliris is thought to work in MG by inhibiting the complement pathway to prevent destruction of the neuromuscular junction. 

Refractory generalized MG occurs in a subset of MG patients. It causes muscle weakness in the head, neck, trunk, limb and respiratory muscles and does not respond to treatments that are typically helpful in other patients. 

Alexion’s marketing application is supported by comprehensive data from the phase 3 REGAIN study, which tested Soliris in patients with refractory generalized MG and demonstrated clinically meaningful improvements for several measures in patients treated with Soliris compared with those who received a placebo.

If approved, Soliris could address a significant unmet need for patients with refractory generalized MG who have largely exhausted conventional therapy. 

Although MDA was not involved in the development and testing of Soliris, it has invested in previous research investigating complement inhibition as a therapeutic strategy for MG.

To learn more about Alexion Pharmaceuticals’ development of Soliris to treat MG, visit

Myotonic dystrophy (DM)

Nearly $1 Million in MDA Funding for DM Research: Award allows the Myotonic Dystrophy Clinical Research Network to continue its specialized work

MDA announced the award of a clinical research network grant totaling $918,000 over three years to spur advances in DM research. This investment, which provides continued support for the Myotonic Dystrophy Clinical Research Network, will support five medical centers that specialize in DM research and clinical care.

The network is led by Charles Thornton, professor of neurology at the University of Rochester, who serves as its overall director. It was started, Thornton noted, to pave the way for testing new treatments in people.

Established in 2013 and supported by funding from MDA and other patient advocacy groups, the National Institutes of Health (NIH) and pharmaceutical company Biogen, the network’s goals are to gain a more detailed understanding of the DM disease process and to collect data needed for clinical trials in order to inform what outcome measures, biomarkers and endpoints will be most appropriate. 

All of the researchers in the network have free and unrestricted access to data generated at all of the sites. In addition, the network is committed to making access to study results broadly available to both academic and industry researchers in the United States and around the world. 

To learn more, read

IONIS-DMPK-2.5Rx Program Discontinued: Ionis and Biogen plan to move ahead with new ‘LICA’ technology

Ionis Pharmaceuticals reported that analysis from its completed phase 1-2 clinical trial of IONIS-DMPK-2.5Rx, an experimental compound for the treatment of DM1, showed mixed results. 

In DM1, a mutation in the DMPK gene leads to the production of toxic RNA (genetic material made from DNA) that accumulates inside muscle and other cells. IONIS-DMPK-2.5Rx is an antisense oligonucleotide, designed to bind and reduce levels of the toxic RNA. 

Although trial results showed encouraging trends in biomarker and splicing changes, the drug did not achieve the concentration levels in muscle needed for it to have an effect in treating the disease. 

Following these results, Ionis decided not to advance its IONIS-DMPK-2.5Rx program. With partner Biogen, the company is now working on new technology called LICA (Ligand-Conjugated Antisense) in an effort to increase potency for future DM1 drugs. The LICA technology enhances distribution to skeletal and heart muscles.

MDA has supported much of the foundational research that led to understanding the underlying molecular cause of DM1, paving the way toward the development of antisense-based and other therapeutic strategies.

Learn more about MDA’s current DM-related research efforts on our grant search page.

Spinal muscular atrophy (SMA)

Antisense Approach Holds Promise: Study reveals potential new strategy to treat SMA

Encouraging results from an MDA-supported study, conducted in collaboration with Ionis Pharmaceuticals, have revealed a potential new strategy to treat SMA. 

Study investigators identified a long non-coding RNA (lncRNA) present in human nerve cells, called motor neurons, that are affected in SMA. (RNA is the chemical step between DNA and protein manufacturing.) The naturally occurring lncRNA is a special type of RNA that does not encode for protein.

Investigators determined that the lncRNA represses production of the needed SMN protein (deficient in SMA) by inhibiting transcription of the SMN2 backup gene. Working with Ionis Pharmaceuticals, they developed a strand of modified DNA, called an antisense oligonucleotide, that binds to and blocks the lncRNA, and showed it could increase SMN protein production.

The work, funded by an MDA development grant and co-funded by the American Association of Neuromuscular & Electrodiagnostic Medicine Foundation for Research and Education, may lead to the development of a new treatment that could be useful by itself or in combination with other therapies in development for SMA.

To read more, see

Editor's note: For the most up-to-date research news and clinical trial updates, be sure to follow us on MDA's Strongly blog.

Clinical Trials Finder Tool

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