Clinical Trials and Studies Spring 2010


Article Highlights:

For the latest information on clinical trials and studies, visit the clinical trials section of MDA’s Web site.

by Quest Staff on March 31, 2010 - 2:56pm

QUEST Vol. 17, No. 2

Featured in this issue: Disappointing results from ataluren trial leads to further analysis * First U.S. site for idebenone in DMD trial opens * Utrophin-boosting drug begins safety tests * Participants sought for trials in DMD, CMD, myotonic distrophy and periodic paralysis

Study of PGD seeks couples who said 'no'

Patricia Hershberger and colleagues at the University of Illinois-Chicago are studying how couples make decisions about whether to undergo preimplantation genetic diagnosis (PGD). In most cases, the goal of PGD is to avoid passing a genetic disorder to a child. At this final stage of the study, the investigators are seeking couples who have recently considered PGD but have decided against it. Contact Patricia Hershberger at (312) 996-1305 or

Ataluren results disappointing

The biopharmaceutical firms PTC Therapeutics and Genzyme have announced preliminary results from the phase 2b clinical trial of the experimental compound ataluren, which was designed to address “nonsense mutations” in Duchenne (DMD) and Becker (BMD) muscular dystrophies.

The companies said the primary end point of change (a test of how far participants can walk in six minutes) did not reach statistical significance within the 48-week duration of the study. Additional analyses of study results are under way.

PTC Therapeutics, which is collaborating with Genzyme to develop ataluren, has received substantial support from MDA for development of this drug.

“We’re extremely disappointed,” said Valerie Cwik, MDA Executive Vice President-Research and MDA Medical Director. “But we expect to learn important information from further analysis of the ataluren data, and, of course remain steadfast in our commitment to finding effective treatments for Duchenne and Becker dystrophies.”

To learn more, visit the PTC Therapeutics Web site and check MDA’s Quest News online.


Losartan and lisinopril to be compared in Duchenne MD

Researchers at the five U.S. centers that form the MDA DMD Clinical Research Network will compare two cardiac drugs in  Duchenne muscular dystrophy (DMD). The investigators want to evaluate the effects of losartan and lisinopril on the heart and also want to see whether either drug has any benefits for skeletal muscle in this disease. Participants must meet cardiac and other study criteria. Contact Laurence Viollet at Nationwide Children’s Hospital in Columbus, Ohio, at

Natural history of DMD, BMD under study

Investigators at the five U.S. centers in the MDA DMD Clinical Research Network are recruiting participants for a large-scale study of changes in the heart and skeletal muscles over time in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Participants in this “natural history” study must be able to cooperate for cardiac and skeletal muscle testing and meet other study criteria. Contact Laurence Viollet at Nationwide Children’s Hospital in Columbus, Ohio, at


First U.S. site in phase 3 trial of idebenone in DMD is now open

Santhera Pharmaceuticals of Liestal, Switzerland, is sponsoring a phase 3 trial of idebenone (Catena) in Duchenne muscular dystrophy (DMD) that opened in 2009 in Europe and opened in the United States in March 2010. Idebenone acts as an ATP production modulator and protects cells from oxidative stress. (ATP is a molecule that stores energy.)

Pediatric neurologist Richard Finkel, co-director of the MDA Clinic at Children’s Hospital of Philadelphia, is the lead investigator for the North American arm of this multinational study.

The trial will enroll up to 240 boys with DMD who are 10 to 18 years old. The safety, tolerability and clinical benefit of a 900-milligram daily dose of idebenone will be compared to a placebo over the course of one year in patients who have and have not had recent exposure to corticosteroid medications, such as prednisone. The first stage of the study will include 40 boys who have not taken corticosteroids 12 months prior to study enrollment, and the second stage, which will start late in 2010, will include about 200 boys who have been taking corticosteroids.

The main objective is to measure any change in respiratory function. The investigators also will look at changes in muscle strength, motor function and quality of life. Contact Michelle Toms at Children’s Hospital of Philadelphia at (215) 590-7727 or


Clusters of proteins are embedded around the periphery of each muscle fiber and help keep the fiber intact during muscle contractions. A lack of the protein dystrophin leads to DMD or BMD, while loss of any of the four sarcoglycan proteins leads to limb girdle muscular dystrophy (LGMD). These protein clusters are mainly linked to the inside of the muscle fiber by dystrophin, although utrophin performs this function on some parts of the fiber border.

Utrophin booster undergoes safety testing

BMN195, a small, orally administered molecule designed to increase production of the muscle protein utrophin is being safety tested in volunteers without muscle disease, says its developer, BioMarin Pharmaceutical of Novato, Calif.

Increasing utrophin production is among the many strategies being pursued to treat Duchenne (DMD) and Becker (BMD) muscular dystrophies. A small molecule that would increase an individual’s own production of utrophin (a utrophin “upregulator”) is considered a promising avenue of therapeutic development and has had support from MDA since the 1990s.

Sufficient levels of utrophin seem capable of at least partially compensating for the muscle protein dystrophin, which is absent in DMD and diminished in BMD. Utrophin is normally present in muscle fibers during fetal development and remains in the mature fibers at the places where nerve and muscle fibers meet. Demonstrating that BMN195 is safe in volunteers without muscle disease helps clear the way for testing the drug in people with DMD or BMD.


Children with merosin-deficient CMD sought for biomarker study

Investigators at Cincinnati Children’s Hospital Medical Center and Children’s Hospital of Philadelphia are seeking 14 boys or girls from infant to 10 years old with merosin-deficient congenital muscular dystrophy (MDC1A). Those who meet specific criteria can participate in a study to identify biological substances (biomarkers) in the blood and urine that can be used to follow disease progression and measure responses to treatments in future clinical trials. Contact Shengyong Hu at (513) 636-3202 or; or Paula Morehart at (513) 636-8967.


Types 1 or 2 MMD participants sought for disease progression study

Update (Jan. 28, 2013): As of January 2013, the MMD study has completed enrolling people with type 1 MMD. The study is still open to those with type 2 MMD. The investigators say they thank those who have enrolled so far.

Researchers at the University of Rochester (N.Y.) Medical Center (URMC) are looking for adults with type 1 myotonic dystrophy (MMD1) or type 2 myotonic dystrophy (MMD2) who are able to walk, to participate in a study of disease progression.

The three-year study requires three visits to URMC, during which investigators will collect patient reports, blood and urine samples, muscle samples via needle biopsy, and will perform electrocardiograms and other tests. Contact Jeanne Dekdebrun at (585) 276-4611 or

Participants sought for trial of dichlorphenamide in PP

Researchers at the University of Rochester (N.Y.) Medical Center have revised a trial of drug treatment for hyperkalemic and hypokalemic periodic paralysis. The original trial was designed to compare the effectiveness of acetazolamide and dichlorphenamide in preventing attacks of paralysis and progressive weakness.

The redesigned trial will not test acetazolamide but will test dichlorphenamide against a placebo for nine weeks, followed by an open-label trial in which all participants will receive dichlorphenamide for a year.

The investigators will measure the number of attacks of weakness; whether continued treatment will prevent or reverse chronic weakness; and whether specific genetic mutations predict which patients will benefit most from treatment.

Contact Patty Smith at (585) 275-4339 or


Mexiletine being tested in nondystrophic myotonias

Nondystrophic myotonias, such as myotonia congenita and paramyotonia congenita, are caused by mutations in skeletal muscle ion channels, such as chloride and sodium channels. The drug mexiletine, used to treat irregular heart rhythms, has a high affinity for muscle sodium channels and may have the ability to correct delayed inactivation of sodium channels, a cause of myotonia.

This study will determine the effectiveness of mexiletine in treating people with nondystrophic myotonias. Participation in this study will last nine weeks and will involve two separate four-week treatment periods, with a one-week washout period between them. U.S. sites are in Kansas City, Kan.; Boston; Rochester, N.Y.; and Dallas. Contact Laura Herbelin (913) 588-5095,

Methotrexate being tested in myasthenia gravis

A multicenter study is seeking to determine if oral methotrexate is an effective therapy for people with myasthenia gravis (MG) who are prednisone-dependent. Participants will be randomly assigned to receive either methotrexate or a placebo. The hypothesis is that adding methotrexate will improve the disease so that the prednisone dose can be reduced. Study sites are in Kansas City, Kan.; Dallas; Irvine and Fresno, Calif.; Columbus, Ohio; San Antonio, Texas; and Atlanta. Contact Laura Herbelin at (913) 588-5095 or


An item in the Winter (January-March) 2010 Research Updates titled “DMD gene therapy is on hold for now” gave the misimpression that the biotech company Asklepios of Chapel Hill, N.C., is not proceeding with its gene therapy research. The company is moving forward with studies required for whole-limb delivery of its Duchenne muscular dystrophy (DMD) compound Biostrophin.


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