BREAKING NEWS: New drug approved by the FDA for Duchenne muscular dystrophy. Learn more about this new treatment option.

Progress Now Summer 2016

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

Amyotrophic lateral sclerosis (ALS)

Anti-Malarial Drug Takes Aim at ALS: Treatment may benefit people with a familial form of ALS 

Results from an MDA-supported multicenter phase 1b clinical trial have shown that treatment with pyrimethamine was safe and well-tolerated and associated with reduced levels of SOD1 protein in people with ALS caused by a mutation in the gene for SOD1.

Pyrimethamine is a small molecule approved by the U.S. Food and Drug Administration for treatment in humans of the parasitic infections malaria and toxoplasmosis. 

The results from the phase 1b trial, which enrolled 32 participants over a period of nine months, showed that SOD1 protein levels are significantly reduced in the cerebrospinal fluid after treatment with pyrimethamine. 

A variety of mutations in the gene for the SOD1 protein account for approximately 20 percent of familial ALS cases, or about 2 percent of all cases of ALS. SOD1 mutations are thought to cause ALS by creating a toxic form of the SOD1 protein. Reduction of levels of toxic SOD1 could have benefits for this population and is being pursued as a promising therapeutic strategy.

To learn more about current ALS research efforts, visit

Congenital muscular dystrophy (CMD)

Omigapil on Fast Track: Designation underlines unmet medical need for an effective therapy in CMD

The investigational drug omigapil, under development by Santhera Pharmaceuticals, has received U.S. Food and Drug Administration (FDA) fast track designation for the treatment of CMD.

Preclinical studies in disease models have shown the drug inhibits cell death and reduces body weight loss and skeletal deformation while increasing mobility and improving life span.

In collaboration with the National Institutes of Health (NIH), Santhera is conducting an ongoing phase 1 clinical study (CALLISTO) evaluating omigapil’s pharmacokinetics (how the drug is absorbed, distributed and metabolized in the body), safety and tolerability in 20 ambulatory and nonambulatory patients ages 5–16, affected by either Ullrich or MDC1A subtypes of CMD. Completion of the study is expected by early 2017.

The fast track designation is designed to facilitate the development and expedite the review of drugs to treat serious or life-threatening conditions, and that demonstrate the potential to address unmet medical needs.

To learn more about CALLISTO, including complete inclusion and exclusion criteria, visit and enter NCT01805024 into the search box.

Charcot-Marie-Tooth disease (CMT)

Pivotal Trial Seeks People with CMT1A: Three-drug combination will be evaluated for effectiveness

Researchers are looking for people with type 1A Charcot-Marie-Tooth disease (CMT1A) to participate in a new pivotal phase 3 clinical trial of the investigational drug PXT3003. The trial aims to determine whether PXT3003 is effective and well-tolerated in people with CMT1A.

PXT3003 is an oral low-dose combination of three different drugs designed to target the genetic cause of CMT1A by reducing levels of PMP22 protein. If shown to be effective, it could become the first approved treatment designed to stop or slow the progression of the disease.

The study, which expects to enroll 300 participants, is taking place at 28 trial sites in the United States (California, Connecticut, Florida, Massachusetts, Minnesota, Missouri, New York and Washington) and Europe (France, Germany, United Kingdom, Spain, the Netherlands and Belgium). Trial participants will be treated with one of two doses of PXT3003 or placebo for 15 months.

Participants may be male or female, 16–65 years old, with a proven genetic diagnosis of CMT1A and must meet additional eligibility requirements.

To learn more about this trial, including site locations and complete inclusion and exclusion criteria, visit and enter NCT02579759 into the search box.

Duchenne muscular dystrophy (DMD)

Eteplirsen Update

At the time Quest went to press, the May 26 goal date for a decision had passed and Sarepta Therapeutics announced that the U.S. Food and Drug Administration (FDA) had requested additional data and was continuing review and internal discussions related to the company’s New Drug Application for eteplirsen. 

Eteplirsen is an exon-skipping drug designed to slow the progression of DMD in some kids and adults with the disease. MDA has been central to development of the exon-skipping approach from the beginning, having funded foundational work upon which the strategy was built. 

Sarepta said the FDA had notified the company that it would continue to work past the original decision date to complete its work as quickly as possible. No new decision date was released. 

Be sure to check back at for the most up-to-date information. For more about Sarepta’s development of eteplirsen to treat DMD, visit

Drisapersen Discontinued: Clinical and regulatory development halted

BioMarin Pharmaceutical announced May 31 that it has withdrawn its Marketing Authorization Application (MAA) from the European Medicines Agency (EMA) following discussions at the May 2016 Committee for Medicinal Products for Human Use (CHMP) meeting that indicated the CHMP intended to issue a negative opinion. 

Based on discussions at the CHMP meeting and the decision in January by the U.S. Food and Drug Administration (FDA) that drisapersen was not ready for approval in the U.S. at that time, BioMarin noted that it has discontinued clinical and regulatory development of the drug. In addition, it has discontinued development of three other exon-skipping drugs, BMN 044, BMN 045 and BMN 053, which have similar chemistry to drisapersen and had been in phase 2 studies for different forms of Duchenne muscular dystrophy.  

BioMarin is working with physicians, patient groups and regulatory authorities to develop a transition plan for individuals who were being treated with drisapersen, BMN 044, BMN 045 and BMN 053. The company says it will continue to explore the development of next generation oligonucleotides for the treatment of Duchenne muscular dystrophy. 

For more about BioMarin’s development of drisapersen to treat DMD, visit

Translarna on Hold in U.S.: PTC Therapeutics continues to pursue regulatory approval 

In a May 5 corporate update, PTC Therapeutics reported that it is continuing efforts to make Translarna available in the United States to people with DMD who could benefit from it. 

Translarna, under development by PTC to treat DMD caused by a “premature stop codon” or “nonsense” mutation, is a “stop codon read-through drug.” It is designed to coax cells to “read through” (ignore) the premature stop codon in the gene for the muscle protein dystrophin, allowing for the production of functional protein. Nonsense mutations are responsible for dystrophin deficiency in 5 to 15 percent of people with DMD.

The company noted it remains engaged in ongoing conversations with the U.S. Food and Drug Administration about concerns raised in a Refuse to File letter it received from the agency earlier this year. PTC has said discussions are aimed at determining a potential path forward that would allow the company to provide Translarna to patients in the United States. 

For more about PTC Therapeutics’ development of Translarna to treat DMD, visit

MoveDMD: Phase 1-2 study seeks participants

Researchers are looking for boys with DMD to participate in a phase 1-2, multisite clinical trial of the investigational drug CAT-1004. The trial aims to evaluate the safety, efficacy, pharmacokinetics (how the drug is absorbed, distributed and metabolized in the body) and pharmacodynamics (effects the drug has on the body) of CAT-1004 in pediatric patients with a genetically confirmed diagnosis of DMD. 

CAT-1004 is an orally administered small molecule designed to inhibit NF-kappa-B, a molecule that is activated from infancy in DMD and which is thought to be central to causing muscle damage and preventing muscle regeneration. In animal models of DMD, CAT-1004 inhibited NF-kappa-B, reduced muscle degeneration and increased muscle regeneration.

The study, which expects to enroll approximately 30 participants, is taking place at four trial sites in the United States (California, Florida, Oregon and Pennsylvania). In addition to having funded preclinical work in the early-stage development of CAT-1004, MDA currently is supporting costs associated with travel for this trial. 

Participants must be male, 4–7 years old, with a confirmed genetic diagnosis of DMD, and must meet additional eligibility requirements. Data on magnetic resonance imaging of the lower and upper leg muscles, physical function (including timed function tests) and muscle strength will be studied.

To learn more about this trial, including site locations and complete inclusion and exclusion criteria, visit and enter NCT02439216 into the search box.

FOR-DMD: Ongoing phase 3 clinical trial seeks participants

Researchers are looking for boys with DMD to participate in the ongoing phase 3 clinical trial titled Finding the Optimum Regimen for Duchenne Muscular Dystrophy (FOR-DMD). The trial will compare three different corticosteroid regimens in boys with DMD, ages 3-7.

Corticosteroids, such as prednisone and deflazacort, work as anti-inflammatories or immunosuppressants, and have been shown in clinical trials to stabilize or improve muscle function and strength in boys with DMD. Benefits often include prolonged ability to walk, increased respiratory function, decreased incidence of spinal surgery and stabilized cardiac function. Among the frequent side effects of steroid treatment are weight gain, osteoporosis, fat redistribution, growth slowing, cataracts, and behavioral and mood changes.

The FOR-DMD trial aims to determine which of three corticosteroid treatment regimens increases muscle function the most, and which causes the fewest side effects. Study results are expected to provide patients and families with clearer information about the best way to take these drugs.

The study, which expects to enroll 225 participants, is currently enrolling at more than 35 trial sites in the United States, Canada, Germany, Italy and the United Kingdom. 

Participants must have a genetically confirmed diagnosis of DMD, be able to rise independently from the floor and meet other eligibility criteria.

MDA has a long history of supporting research and clinical study into the effects of corticosteroids in DMD and related diseases, with studies to determine mechanism of action, drug effects, side effects and best dosing regimen. An MDA human clinical trial grant currently is providing funding support to cover travel expenses for participants in the FOR-DMD trial.

To learn more about this trial, including site locations and complete inclusion and exclusion criteria, visit and enter NCT01603407 into the search box, or contact Kimberly Hart at 585-275-3767 or

Vamorolone Moves to Phase 2 Testing: ‘Dissociative steroid’ may provide benefits of glucocorticoids, without unwanted side effects

ReveraGen BioPharma has announced that it has received a $3 million grant from the National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health to conduct phase 2 clinical trials of vamorolone (previously VBP15) in boys with DMD.

Vamorolone, a “dissociative steroid,” is an anti-inflammatory compound. Researchers hope it will provide 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 clinical trials, glucocorticoid steroids have been shown to benefit DMD patients, but many find the side effects to be burdensome or intolerable.

The news follows encouraging results from a phase 1 trial conducted in healthy adult volunteers, and is an example of the success of MDA’s Venture Philanthropy program (MVP), which provided $2.9 million in support for early-stage and preclinical development of the drug, along with phase 1 clinical testing. 

The phase 2a multiple ascending dose studies to test safety, tolerability and pharmacokinetics (the drug levels in the body) will be conducted in boys with DMD, ages 4–7. A six-month extension study will follow, with the goal to test clinical efficacy, safety and pharmacodynamics (effects the drug has on the body).

To learn more about the phase 2 trials for vamorolone, visit and enter NCT02760264 and NCT02760277 into the search box.

Idebenone May Reduce Respiratory Complications: Treatment could prevent hospitalizations 

Analysis of results from a completed phase 3 clinical study to test idebenone in people with DMD showed that trial participants who were treated with the drug for one year had fewer bronchopulmonary problems, such as upper respiratory tract infections and bronchitis, than participants who received a placebo.

Idebenone, which scientists believe works by improving the way muscles utilize fuel to power movement, is a synthetic version of coenzyme Q10.

Due to respiratory muscle weakness, DMD patients often have impaired cough and a reduced ability to clear their airways. This leads to greater incidence of respiratory infections and hospitalization. 

If proven safe and effective, idebenone could someday be used to help reduce the risk of respiratory infections in people living with DMD.

To learn more about current DMD research efforts, visit

Paramyotonia congenita

Ranolazine Trial Recruiting: Drug may treat symptoms of paramyotonia congenita

Researchers at The Ohio State University are looking for adults, ages 18 years or older, with paramyotonia congenita to participate in a phase 2 open-label study being sponsored by Gilead Sciences to test the experimental drug ranolazine.

Ranolazine currently is approved by the U.S. Food and Drug Administration to treat chest pain in people with heart disease. The goal of the study is to determine whether or not the drug is a safe and effective treatment for the symptoms of paramyotonia congenita.

Study participants will receive treatment with ranolazine and will visit The Ohio State University in Columbus four times in a period of one and a half months to complete questionnaires, physical tasks and evaluations to assess efficacy. Funding is available to cover travel costs, and a $100 stipend will be provided for each in-person visit.

Participants must have a diagnosis of paramyotonia congenita and must meet additional requirements.

For additional information on this trial, including trial inclusion and exclusion criteria, visit and enter NCT02251457 into the search box. If you or someone you know may be interested in participating in the study, please contact Amy Bartlett at 614-366-9050 or

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