Clinical Trials Winter 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 December 31, 2009 - 1:12am

QUEST Vol. 17, No. 1

Featured in this issue: Duchenne muscular dystrophy exon skipping trial ** Idebenone in DMD ** Gene injections for type 2D limb girdle muscular dystrophy **  Patient registry for LGMD2B and Miyoshi myopathy

First U.S. exon skipping trial in DMD to open soon

The first human trial in the United States of a treatment strategy known as exon skipping for Duchenne muscular dystrophy (DMD) is scheduled to begin in March 2010 at Nationwide Children’s Hospital in Columbus, Ohio, one of five centers comprising MDA’s DMD Clinical Research Network.

Neurologist Jerry Mendell, a longtime MDA research grantee and co-director of the MDA Clinic at Nationwide, is the principal investigator.

AVI BioPharma ( of Bothell, Wash., developed the experimental compound, based in part on findings in the laboratory of MDA grantee Stephen Wilton at the University of Western Australia.

Thirty-two boys with DMD who have genetic mutations that may be helped by skipping exon 51 will receive either subcutaneous injections or intravenous infusions of the AVI exon skipping compound for 12 weeks. The study is to evaluate how the experimental compound interacts with the body’s tissues and cells, and may not demonstrate whether or not the compound is effective.

Participants must be onsite in Columbus, Ohio, to receive these experimental treatments and available to return for five follow-up visits.

Because the new study has not yet received full regulatory approval, it won’t begin until March 2010. However, investigators want to hear from interested participants and can help with genetic testing to determine if an applicant is eligible for the trial.

For information, contact study coordinator Laurence Viollet at Nationwide Children’s Hospital at (614) 355-2695 or

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Sites slated to open soon in multinational trial of idebenone in DMD

Pediatric neurologist Richard Finkel, co-director of the MDA Clinic at Children’s Hospital of Philadelphia, will be the lead investigator for the North American arm of a large international trial of idebenone in Duchenne muscular dystrophy (DMD).

Santhera Pharmaceuticals ( of Liestal, Switzerland, is sponsoring the trial, which opened in 2009 in Europe and is expected to open in the United States and Canada early in 2010.

Idebenone, which is chemically derived from the natural substance coenzyme Q10, is being developed by Santhera for use in certain neuromuscular diseases. Santhera’s trade name for the drug in the United States is Catena.

This new trial of idebenone (Catena) is a phase 3 (large-scale) study that will enroll up to 240 walking and non-walking boys with DMD who are 10 to 18 years old, at up to 25 centers in Europe, the United States and Canada.

The safety, tolerability and clinical benefit of a 900-milligram daily dose of Catena will be compared to a placebo over the course of a year.

The main objective is to demonstrate a change in respiratory function, using a measurement known as peak expiratory flow. The investigators will also look at other respiratory measurements, as well as changes in muscle strength, motor function and quality of life.

Watch the MDA Web site for news as it becomes available.

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Three more people with LGMD2D receive gene injections

Three additional trial participants with type 2D limb-girdle muscular dystrophy (LGMD2D) have received intramuscular injections of genes for the alpha-sarcoglycan protein, which is deficient in this disease. The additional participants received the same gene dosage as the first group.

The trial, being conducted at Nationwide Children’s Hospital in Columbus, Ohio, has MDA support and is under the direction of neurologist Jerry Mendell, co-director of the MDA clinic and director of the Center for Gene Therapy at Nationwide.

In April 2009, results for the first three trial participants showed that they all produced four to five times the amount of alpha-sarcoglycan protein in the gene-injected foot muscle compared to the amount seen in the corresponding muscle on the other foot, which received a salt solution. There were no adverse events.

Results from the second group, to be evaluated six months after receiving the gene injections, are expected in 2010.

In late 2009, MDA’s Board of Directors approved funding for a new phase of alpha-sarcoglycan gene transfer that will involve delivery to a region of the body via the bloodstream.

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People with LGMD2B, Miyoshi myopathy sought for patient registry

The Jain Foundation, dedicated to research in diseases that result from a deficiency of the muscle protein dysferlin, is seeking people with type 2B limb-girdle muscular dystrophy (LGMD2B) or a distal muscular dystrophy called Miyoshi myopathy for its database (registry) of patient-submitted information.

LGMD2B and Miyoshi myopathy are caused by mutations in the dysferlin gene that lead to a deficiency of the dysferlin protein. A free mutation analysis (DNA diagnosis) is offered to registrants who meet the necessary criteria.

For more information, go to and click on Patient Registration; or contact Esther Hwang at (425) 882-1440 or

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