Progress Now Spring 2016

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

Amyotrophic lateral sclerosis (ALS)

Evaluating IONIS-SOD1Rx: Participants sought for early-stage trial

Researchers are looking for people with ALS to participate in a phase 1 clinical trial, sponsored by Biogen and Ionis Pharmaceuticals, to test the experimental drug Ionis-SOD1Rx. Ionis-SOD1Rx is designed to block production of flawed SOD1 protein in people with ALS caused by defects in the SOD1 gene. It is administered by intrathecal injection, in which a small needle is inserted into a space in the lower back below the end of the spinal cord in a medical procedure commonly referred to as a “lumbar puncture.”

The goals of the study are to determine the safety and tolerability of the drug in people with ALS and determine how the drug distributes throughout the body. 

The study is taking place at 17 trial sites in the United States, Canada and Western Europe. Of note: Participants can have either the familial or sporadic form of ALS to participate in different parts of the trial.

For additional information on this trial, including site locations and inclusion and exclusion criteria, visit and enter NCT02623699 into the search box. 

VITALITY-ALS: Late-stage clinical trial seeks participants

Researchers are seeking people with ALS to participate in the phase 3 VITALITY-ALS clinical trial, sponsored by Cytokinetics, to test the experimental drug tirasemtiv.

Tirasemtiv is a skeletal muscle activator that is designed to increase the sensitivity of muscle fibers to calcium, which should cause these fibers to contract even if the signal from the nervous system is weaker than normal. It’s expected to result in a potential increase in muscle force generation. 

The goals of the study are to determine the effect of tirasemtiv versus a placebo on respiratory function. Investigators will assess slow vital capacity (SVC), a measure of breathing function, as well as other measures of respiratory function and muscle strength. 

The study is taking place at trial sites throughout the United States and Canada.

Participants must be 18 years or older, have received a diagnosis of ALS within 24 months of starting the trial and meet additional eligibility criteria. 

For additional information on this trial, including inclusion and exclusion criteria, visit and enter NCT02496767 into the search box. 

NurOwn Trial: BrainStorm Cell Therapeutics’ NurOwn stem cell technology may improve breathing, swallowing and muscle strength in people with ALS

BrainStorm Cell Therapeutics in January published the results of its phase 1-2 and 2a clinical trials conducted in Israel to test its NurOwn stem cell technology in which stem cells derived from an ALS patient’s bone marrow are modified to secrete neurotrophic factors before being transplanted back into the patient’s spinal cord, muscle or both.

The trials, which did not include placebo groups, were designed to evaluate the safety and tolerability of this approach and included 26 patients in total. 

Overall, the procedure and the transplanted cells were safe and well-tolerated, with only minor adverse effects noted in some patients. In addition, investigators found that treatment was associated with improvements in forced vital capacity (FVC), a measure of breathing capacity, and in the ALS Functional Rating Scale Revised (ALS-FRS-R), a measure of overall function for ALS patients. 

BrainStorm currently is conducting an ongoing, double-blind, placebo-controlled trial in the United States using an identical treatment protocol. The trial may yield further insight into whether these stem cells could be a safe and effective therapy for ALS.

For additional information on the U.S. trial, visit and enter NCT02017912 into the search box. 

Congenital muscular dystrophy (CMD)

TXA127 Granted Orphan Drug Status for CMD: Tarix Orphan’s lead compound is under development for a number of muscular dystrophies

The U.S. Food and Drug Administration (FDA) has granted Orphan Drug status to Tarix Orphan’s lead compound, TXA127, for the treatment of laminin-deficient congenital muscular dystrophy (MDC1A)

TXA127 is a pharmaceutical grade formulation of the naturally occurring peptide Angiotensin (1–7), which Tarix Orphan is developing to treat a number of orphan and genetic diseases, including congenital muscular dystrophies, Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophy (LGMD). The drug is thought to counteract pathways that cause fibrosis (scarring) and inflammation in muscles and has shown therapeutic activity in animal models of DMD, LGMD, and MDC1A.  

Orphan status is granted by the FDA to promote the development of promising products for the treatment of rare diseases. 

MDA has funded research into modulation of the angiotensin system to prevent fibrosis in muscular dystrophies since 2009. Most recently, a grant to Mahasweta Girgenrath at Boston University will test Tarix’s Angiotensin (1–7) together with growth hormone in MDC1A mice to determine if combination therapies may be effective in treating this disease.  

To learn more about Tarix Orphan’s development of TXA127 to treat CMD and other muscular dystrophies, visit

Duchenne muscular dystrophy (DMD)

Myostatin Clinical Trial: Investigators seek to enroll boys, ages 6–9 years, with DMD 

Pfizer is looking for boys to participate in a phase 2 clinical trial designed to evaluate the safety, tolerability, efficacy, pharmacokinetics (the drug levels in the body) and pharmacodynamics (effects the drug has on the body) of the investigational drug PF-06252616 in Duchenne muscular dystrophy (DMD).

Boys ages 6–9 years who have been diagnosed with DMD both clinically and via genetic testing, and who can walk, may be eligible to participate.

PF-06252616 is an engineered protein designed to bind to and inhibit myostatin, a naturally occurring protein in muscle that is normally produced by the body to keep muscles from growing too large.

Current sites in the United States are located in California, Colorado, Florida, Iowa, Maryland, Minnesota, Missouri, North Carolina, Ohio, Pennsylvania and Utah. Outside the United States, trial sites are located in Canada, Japan, the United Kingdom and Italy. Additional sites are under evaluation and will be listed on when active. Reasonable travel and accommodations will be provided or reimbursed.

To learn more, or to request more information, please visit the study website: Or, please visit and enter NCT02310763 into the search box.

HALO Trial: Dosing and new patient enrollment suspended

Akashi Therapeutics suspended dosing and new patient enrollment in the phase 1b-2a HALO trial, a study evaluating the experimental drug HT-100 in people with DMD following a medical emergency experienced by one of the trial participants. The participant, who was receiving the highest dose in the study, experienced serious, life-threatening health issues before passing away. 

Akashi is working with the U.S. Food and Drug Administration (FDA) to determine whether the patient’s health issues were related to HT-100. The company will provide additional information, including the impact on the future of this trial, once its investigation is complete.

HT-100 is a small molecule drug designed to reduce fibrosis (scarring) and inflammation, and promote healthy muscle fiber regeneration in DMD.

 Families of patients who had been participating or planning to participate in the HT-100 trial are encouraged to contact Akashi at, the principal investigator at their clinical site, or their physician with any questions or concerns.    

To learn more about Akashi Therapeutics’ development of HT-100 to treat DMD, visit

HOPE Trial: Investigators will look at effects of CAP-1002 on DMD-associated heart disease

Researchers at the Cedars-Sinai Heart Institute in Los Angeles are looking for boys and men with DMD to participate in a new early-phase study, sponsored by Capricor Inc., called “HOPE-Duchenne.”

The Halt cardiOmyopathy ProgrEssion in Duchenne study will test an investigational cardiac cell therapy called CAP-1002 to determine if it is safe and potentially effective in treating boys and men with DMD-associated heart disease. 

Study participants will randomly be assigned to receive either treatment with CAP-1002 or standard care (no infusion) over a period of one year. Those assigned to receive CAP-1002 will be administered the treatment (infused into the arteries of the heart) in a hospital setting. 

Investigators will measure the amount of scar tissue in the heart before and after treatment with either CAP-1002 or standard care. 

Recruitment is open at the Cedars-Sinai Medical Center trial site in Los Angeles, with additional trial sites expected to open soon. Support for travel and hotel accommodations is available for study participants. 

To learn more about this trial, including additional eligibility criteria, or to request more information, please visit the study website or go to and enter NCT02485938 into the search box. Or, contact the research team (Mo, Matt or Ryan) at  310-248-8080, or

Revised Advisory Committee Date, Action Date for Eteplirsen: Extension follows submission of new clinical effectiveness data

The U.S. Food and Drug Administration (FDA) has rescheduled the Advisory Committee meeting to review eteplirsen for the treatment of DMD for April 25, 2016. This follows news that the agency extended the PDUFA goal date for eteplirsen by a standard extension period of three months. The new date by which the FDA must make a decision about whether to approve eteplirsen is May 26, 2016.

The extension provides time for the FDA to complete a full review of eteplirsen. It follows Sarepta’s submission of new four-year clinical effectiveness data, which has been designated as a major amendment to the New Drug Application for eteplirsen. 

Eteplirsen is an “exon-skipping” drug that targets a section of DNA called exon 51, and may help up to 13 percent of DMD patients. Exon skipping is a treatment strategy in which sections of genetic code are “skipped,” allowing cells to manufacture partially functional dystrophin, the muscle protein missing in DMD. Exon skipping is not a cure for DMD, but potentially could lessen the severe muscle weakness and atrophy that is the hallmark of the disease.

For more about Sarepta’s development of eteplirsen to treat DMD, visit

Expanded Access: ACCESS DMD provides deflazacort to U.S. patients

Marathon Pharmaceuticals has reported that it is expanding patient access to deflazacort, its investigational therapy for DMD. Medical centers across the country are now participating in the open-label expanded access program (EAP) called ACCESS DMD to provide deflazacort to qualified U.S. patients at no charge.

Deflazacort, a corticosteroid, works as an anti-inflammatory and immunosuppressant. Based on published clinical studies, it appears that deflazacort may be an important new treatment option for patients with DMD. Side effects reported to date include cushingoid appearance, abnormal hair growth, weight gain, skin redness, nasopharyngitis, irritability and cataract formation.

In the United States, deflazacort is considered an investigational therapy, as it has not been approved by the U.S. Food and Drug Administration (FDA).

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

Expanded access programs provide a mechanism for early access to an investigational drug to treat patients with a serious or immediately life-threatening disease or condition that has no comparable or satisfactory alternative treatment options.

To learn more about ACCESS DMD, including a list of clinical sites participating in the program, visit, or call (844) 800-4363

Tadalafil Trial: Phase 3 results showed no indication of efficacy

Eli Lilly reported results from its phase 3 study of tadalafil (brand name Cialis) in approximately 330 patients with DMD. 

Analysis of the initial data from the placebo-controlled, double-blind period of the trial, did not show any evidence of efficacy for tadalafil to slow the decline in 6 Minute Walk Distance (6MWD) compared with placebo through 48 weeks. The study also showed no evidence of efficacy in other secondary assessments of motor function, including the North Star Ambulatory Assessment and timed function tests (10 meter walk/run, rise from floor, and 4-stair climb). The complete efficacy and safety data from the trial will be reviewed over the coming weeks.

Because the trial provided no evidence that once-daily tadalafil treatment has a meaningful effect to slow disease progression compared with placebo, the open-label extension (OLE) phase of the study has been stopped. All investigators were informed of the decision and provided with guidance on discontinuing the patients from the study.

To learn more about Eli Lilly’s development of tadalafil for DMD, visit

Friedreich’s ataxia (FA)

Retrotope Advances RT001: Opens enrollment for highest-dose cohort in ongoing study

Retrotope Inc. has successfully completed the first dose cohort and has opened enrollment for the highest-dose cohort in its ongoing 28-day study of orally dosed RT001 in Friedreich’s ataxia (FA). The company reported that RT001 has been well-tolerated and no serious adverse events or toxicities were observed.

The phase 1-2 clinical trial is designed to test the safety and tolerability of RT001 in people with FA. 

In FA, free iron associated with the disease contributes to degradation of lipids in mitochondrial and cellular membranes. A chemically stabilized form of a natural membrane fatty acid that is resistant to lipid peroxidation, RT001 is designed to stabilize cellular membranes against attack and restore cellular health. 

Trial sites are located at the University of South Florida in Tampa, and the Collaborative Neurosciences Network in Long Beach, Calif.

For more information on this study, visit and enter NCT02445794 into the search box.

Hereditary inclusion-body myopathy (HIBM)

Encouraging Results for Ace-ER in Phase 2 Trial: Extended release aceneuramic acid appeared to slow loss of muscle strength 

A phase 2 double-blind trial funded by Ultragenyx Pharma-ceuticals showed that treatment with acid extended release (Ace-ER) tablets led to dose-dependent increases in sialic acid levels and slowed loss of muscle strength in individuals with GNE myopathy. 

GNE myopathy, also known as hereditary inclusion-body myopathy (HIBM), distal myopathy with rimmed vacuoles (DMRV) and Nonaka distal myopathy, is caused by a mutation in the GNE gene, which prevents the synthesis of sialic acid. Ultragenyx’s drug is designed to replace some of the missing sialic acid and potentially improve muscle strength and function over time, as muscles pick up increased amounts of sialic acid from the serum and incorporate it into proteins and fats.

Compared to trial participants who received a placebo, patients who received treatment with 6 grams per day of Ace-ER retained muscle strength in their upper extremities after 24 weeks. The effect was maintained over an additional 24 weeks for participants who were treated with the 6 grams per day dose compared with those who received 3 grams per day. In the lower extremities, a similar dose-dependent trend was observed but did not reach statistical significance. 

It is hoped these results will be confirmed in an international phase 3 trial, which is currently recruiting. The trial expects to enroll approximately 80 participants. Please visit and enter NCT02377921 into the search box for more information.

To learn more about these trial results, read Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study, recently published in the Journal of Neuromuscular Diseases, at

Spinal muscular atrophy (SMA)

CK-2127107 in Testing: Phase 2 trial seeks participants with SMA

Investigators are seeking participants for a new phase 2 clinical trial, sponsored by Cytokinetics, to test the investigational drug CK-2127107 in people with types 2, 3 or 4 spinal muscular atrophy (SMA).

CK-2127107 is a fast skeletal muscle troponin activator, designed to increase the ability of muscle to contract by sensitizing it to calcium. In five completed phase 1 trials conducted in healthy volunteers, CK-2127107 proved safe and able to increase muscle force. Although the approach does not fix the underlying molecular problem in SMA, drugs that enhance muscle function could likely be used in combination with other therapies that act on the genetic cause of the disease.  

Investigators plan to enroll 72 patients in the trial; each will randomly be assigned treatment over a period of eight weeks with CK-2127107 or a placebo. Multiple assessments of skeletal muscle function and fatigability will be performed including respiratory assessments, upper limb strength and functionality for non-ambulatory patients, as well as six-minute walk and timed-up-and-go for ambulatory patients.

The new study aims to evaluate safety and tolerability and determine whether CK-2127107 has beneficial effects in SMA. 

Study participants must be 12 years or older and meet other eligibility criteria. To learn more about this trial, including inclusion and exclusion criteria and trial site locations, visit and enter NCT02644668 into the search box.

NeuroNEXT Study: Baseline results enhance understanding of SMA natural history

Baseline results from the NeuroNEXT SMA study designed to follow and capture how motor function declines in infants with SMA during the first two years of life, showed that at their initial doctor visit, infants with SMA already had reduced motor function compared to healthy infants.

In addition to motor function measurements, the study evaluated various electrophysiological and molecular biomarkers with the goal to establish the relationship between these biomarkers and motor function in SMA infants. 

Infants who participated in the trial will continue to be followed over time to capture additional measurements and information.

There are currently a number of exciting therapies in development for SMA. However, one hurdle has been the establishment of reliable biomarkers that can be followed over time and used as outcome measures in clinical trials. This study begins to shed light on the natural progression of the disease and how this correlates with measurable biomarkers — information that will be essential to the rapid development of effective therapies for SMA.

To learn more about current SMA research efforts, visit

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