Clinical Trials and Studies Spring 2011

Thanks in part to MDA's basic science program, clinical trials in neuromuscular disease are being conducted around the world.
Article Highlights:

The latest news on clinical trials as of March 2011

by Quest Staff on March 31, 2011 - 9:55am

QUEST Vol. 18, No. 2

In this issue: Acceleron trial of ACE-031 in DMD * Santhera trial of idebenone in DMD * NIH seeking parents’ perceptions of DMD/BMD ataluren trials * Becker MD study seeks participants * Biobank collecting blood samples for neuromuscular disease research * Taiwanese trial finds hydroxyurea ineffective in types 2 and 3 SMA

For current information on clinical trials and studies, see the database at

MDA awards $1.5 million to Acceleron for ACE-031 testing

MDA has begun funding tests of the experimental drug ACE-031 in children with Duchenne muscular dystrophy (DMD). The drug is being developed by Acceleron Pharma, a Cambridge, Mass., biotechnology company in collaboration with Shire, a global specialty biopharmaceutical company that focuses on developing, manufacturing and marketing therapies for rare genetic diseases.

The Association announced Jan. 6, 2011, that it has awarded $1.5 million to Acceleron through its Venture Philanthropy drug development program.

ACE-031 is designed to interfere with the actions of myostatin, a naturally occurring protein that limits muscle growth, and with other, related proteins that regulate muscle mass. It’s designed to act as a “decoy receptor” that sticks to these proteins and inhibits their usual activities.

Mice with a DMD-like disease that were treated with a decoy receptor like ACE-031 showed larger and stronger muscles than their untreated counterparts; and healthy human volunteers treated with ACE-031 experienced modest increases in thigh-muscle volume.

Acceleron is now testing ACE-031 in boys with DMD in a multicenter clinical trial in Canada. MDA’s support will help Acceleron complete the ongoing trial and a six-month extension study.

For information on the trial, contact Rhiannon Taranik at (519) 685-8441 or, or send e-mail to

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Santhera conducting large-scale trial of idebenone in DMD

A large-scale, phase 3 trial of idebenone (Catena) in Duchenne muscular dystrophy (DMD) is open at one U.S. site and several sites in Europe, under the auspices of Santhera Pharmaceuticals.

Santhera, a Swiss pharmaceutical company, is developing idebenone, under the brand name Catena, for a variety of neuromuscular disorders. The company has received approval, with conditions, from Health Canada (the Canadian drug regulatory agency) to use Catena to treat Friedreich’s ataxia (FA).

According to Santhera, Catena is a small molecule designed to facilitate the transport of electrons inside mitochondria, the energy-producing parts of cells. It is administered orally. Through preserving mitochondrial function and protecting cells from a type of damage known as oxidative stress (acting as an “antioxidant”), Catena may prevent cell damage and increase energy production in impaired nerve and muscle tissue, the drug’s developer says.

This one-year, phase 3 trial in North America and Europe is slated to include some 240 boys with DMD who are 10-18 years old, have a confirmed mutation in the dystrophin gene or substantially reduced levels of dystrophin protein in a muscle sample, and meet other study criteria.

The U.S. study site, which is now open to recruitment, is at the Children’s Hospital of Philadelphia (CHOP), under the direction of pediatric neurologist Richard Finkel, who co-directs the MDA clinic at that institution.

The investigators will assess the effect of idebenone on pulmonary function, motor function, muscle strength and quality of life, and they’ll continue to evaluate the safety and tolerability of this drug.

Participants will be expected to make approximately eight visits to the study site over a year’s time.

For information about the CHOP site, contact Nancy Videon, senior research coordinator, at (267) 426-7163 or

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NIH seeking parents’ perceptions of DMD/BMD ataluren trials

If your child participated in a phase 2 clinical trial of ataluren (PTC124) for Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) conducted by PTC Therapeutics, you’re invited to take part in a National Institutes of Health (NIH) study about the experience.

The study involves at least one telephone interview. In addition to parents of trial participants, the researchers will be interviewing clinicians and industry professionals who were involved in these phase 2 trials.

Participation in this study involves a telephone interview that will take about 45 minutes to an hour, with the possibility of a follow-up interview. Interviews will be conducted in English.

Parents will be asked about their decision to enroll their son in the ataluren trial, their expectations and hopes for the trial, and their and their son’s experiences during and after the trial.

Parents who participate must be at least 18 years old; have at least one child with DMD/BMD who was enrolled in the phase 2 extension trial or the phase 2b trial of ataluren at a study site in the United States; be a primary caregiver for their child; have been involved in deciding whether the child would participate in the trial; and have gone with their child to at least one visit to the clinical trial site.

For more information, contact Holly Peay at or Barbara Biesecker at, or call (301) 496-3979.

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Progression of DMD being studied in very young and nonwalkers

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.

Finding out whether or not an experimental treatment helps individuals with Duchenne muscular dystrophy (DMD) requires that researchers know the usual course of the disease and have measurements that will show if a treatment is changing the disease course.

These measurements, called “outcome measures,” are fairly well-established for children with DMD who are between about 3 and 12 years old who are able to walk. However, they are not well-established for those under age 3 or for those with this disease who are no longer walking.

The five-center MDA Duchenne Muscular Dystrophy Clinical Research Network is seeking to establish norms and outcome measures for very young and nonwalking DMD patients, as part of its mission to speed research in this disease.

The centers are in Boston; Minneapolis; St. Louis; Columbus, Ohio; and Sacramento, Calif.

Two MDA-supported studies are being conducted. In the first, DMD Clinical Research Network investigators are seeking infants and young boys under the age of 3 who have a definite diagnosis of DMD.

Parents must be willing to have their child participate in a two-year study of clinical outcomes of motor and mental development.

Investigators for the second study are seeking boys and young men between 7 and 22 years of age who have a definite diagnosis of DMD and who are no longer walking. The time frame for this study is approximately 2.5 years.

Contact Pallavi Anand at Washington University in St. Louis at (314) 362-2490 or

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Becker MD study seeks participants

A study to determine the best “outcome measure” (measurable activity) with which to assess thigh-muscle strength in men with Becker muscular dystrophy (BMD) is seeking participants.

The study, taking place at Nationwide Children’s Hospital in Columbus, Ohio, is a necessary prelude to a planned trial of gene therapy involving injections of genes for the follistatin protein in people with BMD. The gene therapy trial is not yet recruiting participants.

For the outcome measure study, Nationwide investigators are seeking men with BMD who are at least 18 years old, able to walk for six minutes or more and meet other study criteria. Subjects will be asked to walk for six minutes, will have their strength measured, and will be timed while doing other activities. Use of a cane is permitted for the walking test.

The study is expected to take about two hours of the participants’ time during a single visit. Some help with lodging expenses is available for those traveling to Columbus.

Contact Linda Lowes or Lindsay Alfano at Nationwide at (614) 722-6881; or e-mail or

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Biobank collecting blood samples for neuromuscular disease research

People with genetic neuromuscular diseases who want to “do something for science” now have a way to do so, although they’re unlikely to ever know the results of their good deed.

Scientists at the Coriell Institute for Medical Research in Camden, N.J., are seeking blood samples from people with certain inherited neuromuscular diseases for use in research.

In particular, the biobank needs blood samples from people with muscular dystrophy, motor neuron diseases, metabolic diseases of muscle, peripheral nerve diseases, diseases of the neuromuscular junction and other myopathies.

An exact genetic diagnosis is not required for a sample to be added to the bank, although the more information that can be provided, the more useful the sample will be to researchers. The biobank does not perform individual genetic testing, and once a sample is submitted, it cannot be removed.

Numerous measures are taken to protect the privacy and anonymity of the donor, but these measures also prevent any personal information from being derived from the sample. The anonymous samples are used by researchers around the world who use cell lines and DNA to discover new disease-causing genes, study known genes and their expression, and devise new genetic tests.

Participation requires a blood or tissue sample, as well as a completed consent form, a submission form, and a clinical information summary form.

Coriell mails participants a collection kit and pays for the cost of shipping the sample, but not the costs associated with collecting it. Contact Tara Schmidlen at Coriell at (856) 757-4822 or

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Taiwanese trial finds hydroxyurea ineffective in types 2 and 3 SMA

A clinical trial in Taiwan of the drug hydroxyurea, conducted in people with type 2 or 3 spinal muscular atrophy (SMA), found that, at the dosage tested, the drug did not improve strength, motor function or lung function, or increase production of full-length SMN, the protein that’s deficient in SMA. It had been hoped that the drug would improve function and strength by increasing full-length SMN protein production.

In addition to Taiwan, studies of this drug in types 1, 2 and 3 SMA have been conducted at Stanford (Calif.) University under pediatric neurologist Ching Wang, with results expected soon. MDA supported the type 1 SMA study.

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