Clinical Trials and Studies January-February 2006

Article Highlights:
by Quest Staff on January 27, 2006 - 4:13pm

QUEST Vol. 13, No. 1
Emma Ciafaloni conducted the sleep study at the University of Rochester.
Emma Ciafaloni conducted the sleep study at the University of Rochester.
Carol Czebatol, who has myotonic dystrophy, in the sleep lab with  James Hilbert, sleep study coordinator, in 2004.
CarolCzebatol, who has myotonic dystrophy, in the sleep lab with James Hilbert, sleep study coordinator, in 2004.

Sleepiness in MMD1 not due to low orexin

People with type 1 myotonic dystrophy (MMD1) (linked to chromosome 19) appear to spend more time than others in REM (rapid eye movement) sleep, the phase of sleep in which dreaming occurs. They’re also more likely to fall asleep during the day, according to evidence from sleepiness questionnaires and clinical tests.

However, MDA grantee Emma Ciafaloni, a neurologist at the University of Rochester (N.Y.), and colleagues, whose results were presented at a meeting of the International Myotonic Dystrophy Consortium in Quebec in October, found no difference in levels of the protein orexin in the spinal fluid of people with MMD1 and that of people without the disease. Ciafaloni had hypothesized that this protein, which regulates sleep and wakefulness, might be deficient in MMD.

People with MMD2 (linked to chromosome 3), whose sleepiness was assessed only by questionnaire, didn’t differ from a control group.

Mexiletine safe, helpful for MMD-related myotonia

Richard Moxley
Richard Moxley

Also presented at the October IDMC meeting were results showing that the drug mexiletine can safely and effectively combat myotonia, the troublesome inability to relax muscles at will that occurs in myotonic dystrophy (MMD).

Richard Moxley, a neurologist at the Sen. Paul D. Wellstone Muscular Dystrophy Cooperative Research Center at the University of Rochester (N.Y.), studied people with MMD who had difficulty relaxing their grip at will. In two studies, each of which lasted seven weeks and contained 20 participants, Moxley’s group found that either 150 or 200 milligrams of mexiletine three times a day were effective.

They suggest more studies to see whether the drug can combat weakness or muscle pain.

Cardiologists at the meeting voiced concern about whether mexiletine, which is usually prescribed to slow nerve impulses in the heart, could cause or exacerbate heartbeat irregularities in patients with MMD. The investigators reported that they saw no changes in electrocardiograms (which examine heart rhythm) during the two seven-week studies.

Late-onset Pompe Myozyme study open

Genzyme, a Cambridge, Mass., biotechnology company, is recruiting participants for a trial of Myozyme, a laboratory-developed replacement enzyme for the treatment of late-onset acid maltase deficiency (AMD), or Pompe disease). The compound has shown promise in infants with the disease and has been undergoing testing in children up to 3 years old.

The investigators are now seeking people with late-onset (after first year of life) Pompe who are at least 8 years old, able to walk with or without assistive devices, have minimal or no need for ventilatory support, have not participated in the recent late-onset Pompe observational study conducted by Genzyme, and meet other study criteria. Designated trial sites are in California, the District of Columbia, Massachusetts, Missouri, New York and Pennsylvania.

For information about this study and other Myozyme programs and studies, e-mail or call (800) 745-4447. See also and the MDA trials database.

Idebenone for FA in phase 2 trial at NIH

A study of idebenone, a compound that’s similar to coenzyme Q10 and may reduce a type of cell damage known as oxidative stress, is now open to children and adolescents with Friedreich’s ataxia (FA) at the National Institutes of Health (NIH) in Bethesda, Md.

A phase 1 study recently showed that idebenone was well tolerated in people with FA at 60 milligrams per kilogram of body weight for at least a month. The phase 2 study will divide participants into a placebo (inactive substance) group and three idebenone dosage groups to test the drug’s safety and efficacy in this disease.

Participants must have a confirmed diagnosis of FA with a mutation in the frataxin gene, be between 9 and 18 years old, weigh 66 to 176 pounds, be able to walk (with or without assistive devices), and meet other study criteria.

For information call (800) 411-1222 or send e-mail to

MD STARnet still needs participants

Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet), under the auspices of the U.S. Centers for Disease Control and Prevention (CDC), still needs people in families with Duchenne or Becker muscular dystrophies for two interview- and questionnaire-based studies.

One study is on symptom-related care, and the other is on assistive technology. Participants must live in Arizona, Colorado, Iowa or Western New York state.

For details, see, or contact Jennifer Andrews at (520) 626-6816 or

MYO-029 study needs people with Becker MD

A trial of an experimental compound to treat muscular dystrophy is seeking additional participants with Becker muscular dystrophy (BMD).

The compound, MYO-029, was developed and is being tested by Wyeth Pharmaceuticals of Collegeville, Pa. It’s designed to block a protein called myostatin, a natural inhibitor of muscle growth.

F or study criteria and locations, see and enter MYO-029 in the search box.

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