Clinical Trials and Studies May-June 2006

Article Highlights:
by Quest Staff on May 1, 2006 - 11:59am

QUEST Vol. 13, No. 3

Genzyme seeks FDA ok for Pompe treatment

Genzyme, a Cambridge, Mass., biopharmaceutical company, has applied to the U.S. Food and Drug Administration (FDA) and the European Medicines Agency for approval of Myozyme, a laboratory-developed enzyme to replace missing acid maltase in patients with acid maltase deficiency, or Pompe disease. The FDA is expected to announce a decision about Myozyme’s approval this spring.

Two trials of Myozyme in babies with infantile-onset Pompe disease have shown the drug to be promising. Genzyme also sponsored an observational study of late-onset Pompe disease in older patients to determine end points for a late-onset treatment trial now being conducted.

The company has been giving Myozyme to patients not eligible for its clinical trials in its “expanded access” programs.

Jerry Mendell
Jerry Mendell
John Kissel
John Kissel
Richard Barohn
Richard Barohn

For more information about Genzyme’s Myozyme trials, access programs and the Pompe Registry, go to; (enter “Pompe” in the search box); or contact Genzyme at (800) 745-4447 or

Etanercept study in IBM somewhat encouraging

A pilot study of the drug etanercept (Enbrel) for inclusion-body myositis (IBM) conducted at the University of Kansas Medical Center in Kansas City and Ohio State University in Columbus is moderately encouraging.

Etanercept, which is on the market to treat severe rheumatoid arthritis, blocks the effects of TNF, a body chemical involved in the inflammatory process. IBM also involves inflammation in most cases.

Nine people with IBM received 25 milligrams of etanercept in subcutaneous injections twice a week for an average of 17 months. The etanercept-treated participants showed a small improvement in their grip strength measurements after 12 months (but not after six) compared to untreated patients. There was no improvement in muscles that move the elbows or knees.

The team, which included Jerry Mendell and John Kissel, co-directors of the MDA clinic at Ohio State, and Richard Barohn, who has MDA funding for a different drug study at the University of Kansas, published their results in a Jan. 28 supplement to the journal Neurology.

They say that future IBM trials may need to last longer than six months, and that a larger etanercept trial in which some patients take a sham drug is indicated.

In MELAS, side effects of DCA outweigh benefits

Dichloroacetate (DCA), a drug which researchers had hoped would lower potentially toxic levels of lactic acid in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes), has been found to have serious adverse effects on nerves that outweighed any potential benefits.

Petra Kaufmann at the Neurological Institute of Columbia University in New York, and colleagues, with support from the National Institutes of Health and two small foundations, conducted the trial, publishing results in the Feb. 14 issue of Neurology.

The investigators ended the study prematurely, after finding evidence of significant damage to the peripheral nerves (those running between the spinal cord and the periphery of the body) associated with taking DCA.

It had been anticipated that DCA might decrease lactic acid levels in the blood and nervous system and improve overall functioning.

The 30 trial participants began taking DCA or a placebo at varying times. When the study ended, only one person had completed the planned three-year study period.

The investigators predict that the nerve damage in trial participants is likely to resolve over the next two years, although they anticipate some patients won’t completely recover. They’ll continue to follow the patients.

Genetic myotonias topic of NIH study, trial plans

A study sponsored by the Rare Diseases Clinical Research Network of the National Institutes of Health (NIH) in Bethesda, Md., aims to pinpoint the precise defects in and design clinical trials for two forms of genetic myotonia, the inability to relax muscles at will. These forms of myotonia — myotonia congenita and paramyotonia congenita — are sometimes called nondystrophic, to separate them from myotonic muscular dystrophy.

The investigators are seeking 75 participants who are at least 6 years old and meet study criteria. They’ll collect data about symptoms and conduct physical exams and tests of strength, function, electrophysiology and DNA. They plan to use the information to design future clinical trials.

For more information, go to

CoQ10 deficiency rare and easily treatable

Weakness in the muscles of the shoulder and hip, combined with other specific abnormalities, can signal a deficiency of coenzyme Q10 and can be treated with supplements of coQ10, say researchers in Germany and the United States, who published their results in the Jan. 24 issue of Neurology.

Salvatore DiMauro
Salvatore DiMauro

CoQ10 is a natural substance that participates in energy production inside the mitochondria, energy-producing “assembly lines” inside cells.

A combination of high levels of creatine kinase in the blood, evidence of storage of lipids (fats) in muscle cells, and excess proliferation of the mitochondria, with other mitochondrial abnormalities, are the hallmarks of this rare disorder.

Rita Horvath at Ludwig-Maximilians University in Munich, Germany, and colleagues, say coenzyme Q10 deficiency is generally treatable with supplements of coenzyme Q10, which led to “dramatic improvement” in the symptoms of all three of the patients described in this report.

Salvatore DiMauro, a leading expert in metabolic muscle disease and an MDA grantee at Columbia University in New York, was part of the study team.

FDA asks CepTor for more data for DMD test

CepTor, a biopharmaceutical company in Hunt Valley, Md., announced in February that it has retained Banyan Biomarkers of Alachua, Fla., to help it meet Food and Drug Administration requirements prior to testing its drug Myodur in boys with Duchenne muscular dystrophy (DMD).

Myodur was developed as a blocker of calpain, an enzyme that breaks down muscle tissue, on the theory that it could combat muscle loss in DMD. The experimental drug is designed to target and inhibit calpain in muscle cells.

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