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Progress Now Winter 2018

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

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MDA Research In Action

MDA Research Dollars Power Progress: New MDA grants will impact a range of neuromuscular diseases 

In November, MDA announced 13 new MDA research and development grants, with a total funding commitment of $3.5 million, that are now supporting research projects around the world. 

The new projects cover a broad range of diseases in MDA’s program and are intended to impact the greater neuromuscular disease landscape. 

The new awards constitute MDA’s Summer 2017 grant cycle and are in addition to other awards announced throughout 2017. 

• Announced Jan. 24: An MDA clinical research network grant totaling $918,000 over three years will spur advances in myotonic dystrophy (DM) research. The 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 the network’s director. 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.

• Announced March 9: MDA’s Winter 2017 round of grants, totaling 29 awards worth more than $7 million, began funding projects covering a number of diseases in MDA’s program on Feb. 1. 

• Announced March 10: Izumi Biosciences in Lexington, Mass., was awarded an MDA Venture Philanthropy (MVP) grant totaling $96,360 to fund early-stage development of IZ10023, a type of drug called a “pharmacokinetic (PK) enhancer,” which could enhance the effectiveness of other drugs people with ALS are taking, such as riluzole. 

• Announced June 14: Michael Benatar, at the University of Miami Miller School of Medicine in Florida, and Jonathan Katz, at California Pacific Medical Center in San Francisco, were awarded a clinical research network grant to support their work on the Clinical Procedures to Support Research (CaPTuRe) project, which aims to implement the “ALS Toolkit,” a system to collect clinical data in such a way that it can be used for ALS research. The two-year award totaling $300,000 will support work conducted through Clinical Research in ALS and Related Disorders for Therapy Development (CReATe), aimed at lessening the burden on people with ALS to attend both clinical and research appointments. 

• Announced July 11: Johanna Hamel, a neurologist at the University of Rochester in New York, was awarded a clinical research training fellowship for her work in comparative studies of RNA toxicity in DM. The two-year award — co-sponsored by MDA with the American Academy of Neurology and the American Brain Foundation — will provide a total of $130,000, including a $10,000-per-year stipend for tuition, to support Hamel’s work to shed light on the molecular processes that drive DM. 

• Announced Aug. 30: Nicholas Johnson, assistant professor of neurology, pediatrics and pathology at the University of Utah in Salt Lake City, was awarded a human clinical trial grant totaling $598,348 over three years to conduct a natural history study in congenital myotonic dystrophy (DM1). 

• Announced Oct. 1: Maya Maor Nof, a postdoctoral research fellow at Stanford University School of Medicine in California, was awarded the 2017 SSSI-MDA Fellowship Award. The award, co-sponsored by Strength, Science & Stories of Inspiration (SSSI), will provide a total of $40,000 over two years to support Maor Nof’s work to shed light on the mechanisms underlying nerve cell death in ALS.

• Announced Nov. 3: Iron Horse Diagnostics in Scottsdale, Ariz., was awarded an MDA Venture Philanthropy (MVP) grant totaling $233,200 to support development of a prognostic (predictive) test for ALS. Iron Horse Diagnostics Chief Scientific Officer Andreas Jeromin will serve as the principal investigator on the project.

MDA currently is funding about 150 research projects worldwide. Check out Grants at a Glance section to learn more about MDA-funded research projects.

ALS (amyotrophic lateral sclerosis)

Centaur ALS Trial Seeks Participants: Trial will test therapy designed to block nerve cell death 

Researchers are looking for people with ALS to participate in the CENTAUR ALS clinical trial. Sponsored by Amylyx Pharmaceuticals, the phase 2 trial is designed to test the safety and tolerability of the experimental drug AMX0035 and determine whether the treatment is able to slow decline of function in people with ALS.

AMX0035 is a combination therapy, designed to block nerve cell death and reduce inflammation to slow the progression of ALS.  

At seven in-person visits, participants will undergo strength testing, blood draws and other assessments to enable investigators to determine whether AMX0035 has any effects on muscle strength and respiratory function, as well as help them determine whether biomarkers that can signal nerve cell death are present. 

In order to be eligible to participate, individuals must be 18 to 80 years old, have a definite diagnosis of ALS and meet other eligibility criteria. 

The trial is taking place at 25 trial sites across the United States, and support for travel costs may be available.

To learn more about this trial, visit and enter NCT03127514 in the “Other Terms” search box, or contact study coordinator Carly Doyle at 855-437-4823 or

Charcot-Marie-Tooth disease (CMT)

Participants Sought for ACE-083 CMT Study: This will be the first test of ACE-083 in people with CMT 

Researchers are looking for people with CMT1 and CMTX to participate in a phase 2 clinical trial, sponsored by Acceleron Pharma, to test the investigational drug ACE-083.

Delivered by intramuscular injection, ACE-083 is based on a naturally occurring protein and is designed to enhance the body’s own promoters of muscle growth specifically in the muscles into which the drug is administered. Targeting the tibialis anterior (a long, narrow muscle on the front of the shin) in CMT with the drug could improve ankle dorsiflexion, which could in turn lessen foot drop (difficulty lifting the foot at the ankle, so that the toes point downward during walking).  

Total study duration for each patient will be approximately 24 weeks, including a four-week screening period, a 12-week treatment period and an eight-week follow-up period after the last dose. 

To be eligible to participate, individuals must be at least age 18, have genetically confirmed CMT1 or CMTX, or have a first-degree relative with genetically confirmed CMT1 or CMTX and clinical signs/symptoms of CMT1 or CMTX, and meet additional criteria. 

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

To learn more about this trial, go to and enter NCT03124459 in the “Other Terms” search box, or email

Exercise May Preserve Strength in CMT: In study, progressive resistance exercise strengthened muscles over a two-year period

Results from an MDA-supported study conducted at the University of Sydney (Australia), show that progressive resistance exercise not only is safe, but it can help to significantly reduce the muscle weakness experienced by children with CMT. 

In the study, which involved a total of 60 children with different types of CMT ages 6 to 17, participants completed a regimen consisting of exercising three times per week for six months, using a custom-built exercise cuff for the foot (similar to ankle weights commonly available in sports stores). After initial supervised training sessions, the children completed the exercise regimen at home.

The investigators found that six months of moderate-intensity progressive resistance exercise could help not only slow the progression of muscle weakness by up to 30 percent compared to CMT patients who did not exercise, but it even led to increases in strength for the exercised muscles over a two-year period.

It is hoped that increasing the strength of these muscles through an exercise routine potentially could lessen the disability caused by CMT and prolong function, leading to improved quality of life. 

To read about MDA’s current CMT-related research efforts, visit Grants at a Glance and search by disease name.

Duchenne muscular dystrophy (DMD)

FDA Says ‘No’ to Translarna: Advisory committee determined data in support of the drug were inconclusive

PTC Therapeutics reported on Oct. 25, 2017, that it received a Complete Response Letter from the U.S. Food and Drug Administration (FDA) indicating that the agency is unable to approve the company’s New Drug Application for ataluren (brand name Translarna) for the treatment of DMD, in its current form. The company has filed a formal dispute resolution.

Translarna is designed to act by changing the way muscle cells interpret genetic information, coaxing them to produce a needed muscle protein called dystrophin despite the presence of a nonsense mutation in the DMD gene. 

In trials, the drug has demonstrated mixed results. In PTC Therapeutics’ phase 3 “ACT DMD” clinical trial of Translarna, the drug failed to meet its primary endpoint. However, post-hoc analysis indicated that the drug may slow functional decline in a subset of DMD patients, while other patients were not responsive to treatment. 

Translarna received conditional approval in the European Union in August 2014 for use in people with DMD caused by a nonsense mutation who are at least age 5 and able to walk.

MDA has funded groundbreaking DMD research for more than 65 years, including early clinical testing of Translarna.

Read more about the FDA decision here.

Golodirsen Shows Potential to Treat DMD: Exon skipping drug aims to lessen muscle weakness and atrophy

Sarepta Therapeutics reported encouraging results from a phase 1/2 clinical trial that suggest its experimental drug golodirsen may be effective as a treatment for DMD. 

Golodirsen is an exon skipping drug designed to slow disease progression in DMD. Administered by intravenous infusion, it targets a section of genetic code called exon 53, and may help up to 8 percent of boys with the disease. 

Results from the trial, which tested the drug in 25 boys with DMD, showed that treatment with golodirsen for approximately one year was associated with a statistically significant increase in dystrophin protein production. Muscle biopsies confirmed that all participants responded to the drug, as measured by increased dystrophin.

The 25 boys who participated in the trial will continue to be evaluated for a total of 144 weeks, and Sarepta has said it plans to release study data at a future medical or scientific conference.

Golodirsen also is being evaluated in the ongoing phase 3 ESSENCE study in boys with DMD gene deletions amenable to skipping exons 45 or 53. This trial currently is recruiting approximately 100 people to participate at sites across the United States, Canada and Europe.

MDA has been central to development of the exon skipping approach.

For more information about the ESSENCE trial, visit and enter NCT02500381 in the “Other Terms” search box.

Friedreich’s ataxia (FA)

FDA Grants Orphan Drug Designation to JOTRO: Designation encourages the development of treatments for rare disorders 

The investigational drug JOTROL, under development by Jupiter Orphan Therapeutics to treat FA, has received U.S. Food and Drug Administration (FDA) Orphan Drug Designation.

JOTROL is a unique formulation of trans-resveratrol. Resveratrol is a naturally occurring compound that has been investigated in a number of neurodegenerative and neuromuscular diseases, due to its positive effects on energy metabolism and mitochondria (the “energy factories” in cells), and a host of antioxidative, anti-inflammatory and anti-aging activities. 

Orphan Drug Designation may help facilitate development of JOTROL for the treatment of FA, as it provides incentives meant to encourage Jupiter Orphan Therapeutics to develop and market it.

Results from an open label phase 2 trial of resveratrol conducted by Murdoch Children’s Research Institute in Melbourne, Australia, showed that participants taking resveratrol demonstrated improvement of neurological symptoms. However, treatment with higher doses of the drug was associated with gastrointestinal (GI) tolerability issues. Jupiter Orphan Therapeutics has said it plans to conduct a larger placebo-controlled study designed to assess whether treatment with JOTROL can generate the same beneficial effects without the unwanted GI side effects. 

To read about MDA’s current FA-related research efforts visit Grants at a Glance.

GNE myopathy/HIBM

Ultragenyx Discontinues Ace-ER Program: Trial results showed no benefit, as compared to placebo

Ultragenyx Pharmaceutical announced that a phase 3 study to evaluate aceneuramic acid extended release (brand name Ace-ER) for the treatment of GNE myopathy, also known as hereditary inclusion-body myopathy (HIBM), and Nonaka myopathy, failed to meet its primary and key secondary endpoints. 

Results showed no significant difference in the upper extremity muscle strength of those treated with Ace-ER as compared with those who received a placebo. Therefore, Ultragenyx has said it will not file with the U.S. Food and Drug Administration (FDA) for approval of Ace-ER and has discontinued further clinical development of the drug.

The company reported it will work with investigators and patient groups to make available the valuable natural history data and development tools associated with the trial for the development of other therapies. 

If you participated in the Ace-ER trial, be sure to speak with your physician about any questions you may have regarding your trial experience and treatment plan going forward.

Mitochondrial myopathy

FDA Grants Orphan Drug Designation to Elamipretide: In studies, treatment was associated with clinical benefits

The investigational drug elamipretide, under development by Stealth BioTherapeutics to treat muscle weakness caused by mitochondrial disease, has received U.S. Food and Drug Administration (FDA) Orphan Drug Designation.

Elamipretide is designed to modify disease by helping restore normal energy production in mitochondria and decrease oxidative stress, an imbalance between the production of free radicals and the body’s ability to neutralize them. Mitochondria are small, essential organelles that populate every cell of the body and are often referred to as the “powerhouse of the cell,” since they generate most of the energy in an organism.

Orphan Drug Designation may facilitate development of elamipretide for the treatment of mitochondrial myopathy by providing incentives meant to encourage companies like Stealth BioTherapeutics to develop and market drugs for rare disorders. 

Stealth BioTherapeutics currently is recruiting participants for its RePOWER trial, an observational study of people with primary mitochondrial disease. RePOWER is designed to better characterize and correlate symptoms and signs of myopathy, genetic test results and the use of commonly prescribed treatments. Participants in the RePOWER study may have the opportunity to participate in a future phase 3 trial for elamipretide. 

To learn more about the observational study of individuals with mitochondrial disease, visit and enter NCT03048617 in the “Other Terms” search box.

Myasthenia gravis (MG)

FDA Approves Soliris: Soliris becomes the first in a new class of drugs to be approved for MG in the U.S.

Alexion Pharmaceuticals announced on Oct. 23, 2017, that the U.S. Food and Drug Administration (FDA) approved eculizumab (brand name Soliris) as a treatment for adults with generalized myasthenia gravis (MG) who are anti-acetylcholine receptor antibody-positive. 

Soliris was tested in clinical trials in people who had previously failed immunosuppressive treatment and continued to suffer from significant unresolved disease symptoms such as difficulties seeing, walking, talking, swallowing and breathing. Participants taking Soliris had improved scores on scales designed to assess quality of life and symptom burden including double vision, ptosis (drooping of the eyelids), swallowing, speech, breathing, and use of arms and legs. 

Soliris is a terminal complement inhibitor that targets a part of the immune system called the complement system, which is responsible for helping antibodies clear damaged cells and is inappropriately activated by antibodies present during MG. Soliris is thought to work in MG by inhibiting the complement pathway to prevent destruction of the neuromuscular junction.

If you are interested in adding Soliris to your treatment regimen, you should speak with your health care provider, who will initiate treatment, if appropriate. 

If you are interested in Soliris, speak with your health care provider about whether the treatment is right for you. You may learn more by visiting or calling 1-888-SOLIRIS to speak with a nurse case manager through OneSource, a patient support system from Alexion Pharmaceuticals, the manufacturer of Soliris. The Alexion nurse case managers can answer your questions about Soliris. 

Pompe disease (acid maltase deficiency, AMD)

FDA Grants Orphan Drug Designation: Designation encourages the development of treatments for rare disorders 

The investigational combination drug therapy ATB200/AT2221, under development by Amicus Therapeutics to treat Pompe disease, or AMD, has received U.S. Food and Drug Administration (FDA) Orphan Drug Designation.

Amicus Therapeutics’ combination drug strategy pairs ATB200, a synthetic acid alpha-glucosidase (GAA) enzyme that is deficient in Pompe disease, with AT222, a companion drug that helps the therapeutic GAA enzyme be more effective. AT222 is a “pharmacological chaperone,” designed to protect the GAA enzyme while it is circulating in the bloodstream. Data from previous studies suggest that co-administration of the two drugs results in enhanced uptake and activity in muscle tissue of the replacement enzyme.

Orphan Drug Designation may help facilitate development of ATB200/AT2221 for the treatment of Pompe disease, as it provides incentives meant to encourage Amicus Therapeutics to develop and market it. 

A phase 1/2 clinical trial currently is underway to test the combination therapy in Pompe disease. 

For more information about the phase 1/2 trial, visit and enter NCT02675465 in the “Other Terms” search box.

Spinal muscular atrophy (SMA)​

STR1VE SMA Gene Therapy Study: Participants sought to test efficacy of gene replacement therapy

Researchers are looking for individuals with type 1 SMA to participate in the phase 3 STR1VE clinical trial, sponsored by AveXis, to test efficacy for its SMA gene replacement therapy AVXS-101. 

Administered by one-time intravenous infusion (a needle inserted into a vein), AVXS-101 is designed to deliver a gene that can produce the Survival Motor Neuron (SMN) protein. SMN is critical to the function of the nerves that control muscles and is missing in individuals with SMA. Increased production of the protein may lead to improvements in muscle strength and function. 

All participants in the open-label STR1VE study will receive treatment with the experimental therapy. Study-related visits, tests and treatments will be provided to participants at no cost. 

To be eligible to participate, individuals must be under6 months old, have one or two copies of the SMN2 gene, and meet additional criteria.

Trial sites are located in California, Colorado, Illinois, Maryland, Ohio, Oregon and New York. Travel assistance may be available for families who don’t live near one of the research centers.

To learn more about this trial, go to and enter NCT03306277 in the “Other Terms” search box, or visit and email the trial coordinator at the site nearest you.

FIREFISH SMA Study: Participants needed for phase 2 trial to test RG7916 

Researchers are looking for individuals with type 1 SMA to participate in the phase 2 FIREFISH clinical trial, sponsored by Hoffmann-La Roche, to test the investigational drug RG7916. A liquid medication, RG7916 is delivered once daily by mouth or through a feeding tube. 

RG7916 is an SMN2 splicing modifier that distributes throughout the entire body. It is designed to modify SMN2 messenger RNA splicing and increase levels of the needed SMN protein. (RNA is the chemical step between DNA and protein production.) 

All participants in the open-label FIREFISH study will receive treatment with the experimental therapy. In addition, they will receive all study-related procedures and exams, including physical exams, motor function tests, CMAP (testing that assesses the interaction of muscles and nerves during activity), blood sample testing and eye examinations.  

Participation is expected to last 24 months. To be eligible, individuals must be ages 1 to 7 months, have a confirmed diagnosis of SMA, have two copies of the SMN2 gene (confirmed by testing) and meet additional criteria.

U.S. trial sites are located in California and New York, and travel support may be available for families who don’t live nearby. 

To learn more about this trial, go to and enter NCT02913482 in the “Other Terms” search box.  

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