Research Briefs: BMD, DMD, Pompe disease

New drug trials in Becker and Duchenne muscular dystrophies are open, and a new strategy to improve Pompe disease treatment is proposed

Article Highlights:
  • PTC Therapeutics has opened a new trial outside the United States of its experimental drug ataluren; the drug is in development to treat Duchenne or Becker MD that's caused by a nonsense mutation.
  • A new phase 1 trial of tadalafil and sildenafil to treat Duchenne MD has opened in Los Angeles; the drugs may increase blood flow to muscles.
  • Directing gene therapy to the liver in mice with a Pompe-like disease appears to increase the immune system's ability to tolerate generalized gene therapy.
by Margaret Wahl on June 28, 2012 - 2:11pm

PTC begins non-US study of ataluren in DMD/BMD

Biopharmaceutical company PTC Therapeutics announced June 27, 2012, that it has initiated a non-U.S., open-label study of its experimental drug ataluren for people with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) caused by a nonsense mutation. Study participants must have previously participated in a PTC-sponsored ataluren study.

In "open-label" trials, researchers and participants know which treatment is being administered.

Ataluren is designed to coax muscle cells to "read through" (ignore) nonsense mutations (also known as premature stop codons) in the gene for the muscle protein dystrophin.

The ataluren study is seeking approximately 100 participants and will take place in Australia, Belgium, Canada, France, Germany, Israel, Italy, Spain, Sweden and the United Kingdom.

Interested parties may contact Diane Goetz at PTC Therapeutics (908-912-9256), or send an email to PTC launched a similar study in the United States in November 2010.

To learn more, see the following:

Tadalafil, sildenafil to be studied in DMD

Researchers at Cedars-Sinai Medical Center in Los Angeles have opened a phase 1 study of the short-term effects of tadalafil (Cialis) and sildenafil (Viagra) on blood flow to exercising muscles. The trial is enrolling 12 boys with Duchenne muscular dystrophy (DMD); participants must be 7 to 15 years old, able to walk and have no signs of heart failure.

It is believed that tadalafil and sildenafil, which are PDE inhibitors, may increase blood flow to exercising muscles. For details, contact study coordinator Sharon Tang at Cedars-Sinai (310-967-4342), or send an email to

A similar trial of tadalafil in Becker muscular dystrophy (BMD) is ongoing but no longer recruiting new participants.

To learn more, see the following:

Reducing the immune response to enzyme therapy in Pompe disease

Enzyme replacement therapy with Lumizyme or Myozyme has improved the lives of many people with Pompe disease (acid maltase deficiency), a disorder resulting from mutations in the gene for acid maltase, also known as acid alpha glucosidase, or GAA.

However, enzyme replacement therapy is less than completely effective in many patients, and one of the reasons is that the immune system may reject the newly delivered GAA enzyme as a "foreign" protein. (All enzymes are proteins.) Reducing the potential immune response to enzyme replacement therapy in Pompe disease has been a challenge.

Now, scientists at Duke University have found, in mice with a Pompe-like disease, that injecting GAA genes into the liver may be one strategy to improve the body's tolerance to currently available enzyme replacement therapy, or possible future GAA-based gene therapy (the injection of functional genes).

Mice that received injections of GAA genes directed specifically to the liver along with GAA gene therapy directed to other tissues were better able to tolerate the generalized gene therapy than mice that didn't receive the liver-specific GAA injections.

The mice that got the liver-specific gene therapy in addition to the generalized gene therapy showed better biochemical correction of their enzyme deficiency and better motor function than their counterparts that did not receive the liver-specific injections.

MDA supported Baodong Sun at Duke University for this work via a development grant, a type of award given by MDA to researchers who are early in their careers.

Other proposed strategies to induce tolerance to enzyme replacement therapy (ERT) in Pompe disease include the use of immunosuppressant drugs with ERT and the use of experimental drug AT2220 with ERT.

To learn more, see the following:


About Clinical Trials

About Clinical Trials

A clinical trial is a test, in humans, of an experimental treatment. Although it's possible that benefit may be derived from participating in a clinical trial, it's also possible that no benefit, or even harm, may occur.

MDA has no ability to influence who is chosen to participate in a clinical trial.

To learn more, see Understanding Clinical Trials and Being a Co-Adventurer, which is about neuromuscular disease clinical trials. To see a continuously updated database of clinical trials, go to

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