Clinical Trials and Studies Winter 2009

Article Highlights:

Updates on the latest clinical trials and studies as of December 2008

by Quest Staff on January 1, 2009 - 4:36pm

QUEST Vol. 16, No. 1

This article contains items about: Pompe disease (acid maltase deficiency), Lambert-Eaton myasthenic syndrome, Duchenne and Becker muscular dystrophies, mitochondrial myopathy, myasthenia gravis and spinal muscular atrophy

Genzyme continues studying Myozyme in Pompe disease

The biopharmaceutical company Genzyme, based in Cambridge, Mass., continues to conduct several studies to refine the usage of its drug, Myozyme, for the treatment of Pompe disease (acid maltase deficiency). (For more about Myozyme, see "Rescued Lives".) The studies include:

  • a five-participant trial to investigate the possible benefit of giving two immunosuppressant drugs prior to Myozyme infusions in patients with infantile-onset Pompe disease who are not making any acid maltase;
  • a 30-participant study of long-term growth and development in infants less than 1 year old who are on Myozyme;
  • a 14-person study of alternative dosing regimens of Myozyme in patients at least 6 months old who have not had an optimal response to the standard dosing schedule; and
  • a nine-person study of Pompe patients at least 6 months old to see whether either of two types of immunosuppressive regimens in combination with Myozyme is safe or beneficial.

For all studies, contact Genzyme Medical Information at (800) 745-4447 or (617) 252-7832 or; or see MDA Research for Clinical Trials.

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Amicus is studying pharmacological chaperone in Pompe disease

Cranbury, N.J., biopharmaceutical company Amicus Therapeutics is testing a molecule it calls AT2220 in adults with Pompe disease (acid maltase deficiency) at some 20 trial sites in the United States, Canada and Europe.

Participants cannot have received enzyme replacement therapy for at least three months prior to study entry and must agree not to receive it during the study; must not require noninvasive ventilatory support more than eight hours a day while awake; and must meet other study criteria.

AT2220 is a pharmacological chaperone, meaning it helps proteins fold into their proper shape. In Pompe disease, it’s hoped the chaperone will stabilize and improve the effectiveness of abnormal acid maltase protein (enzyme) molecules made by patients. For information, call Amicus at (609) 662-2000, or send e-mail to

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Diaminopyridine under study in Lambert-Eaton syndrome

Adults 18 or older with Lambert-Eaton myasthenic syndrome (LEMS), a disorder in which weakness results from deficient signaling from nerve to muscle fibers, can participate in a study of 3,4-diaminopyridine, a drug that has been shown to be effective in treating this condition but is not approved by the U.S. Food and Drug Administration. Contact Janelle Butters at (916) 734-6276 or

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Acceleron testing compound to slow muscle wasting

A compound known as ACE031, developed by Acceleron Pharma of Cambridge, Mass., to block biochemical signaling involved in muscle wasting, is now being tested in healthy volunteers in Canada. The compound has shown promise in animal models of neuromuscular disease, as well as models of age-related muscle loss and other muscle-wasting conditions. This phase 1 trial is to evaluate the drug’s safety and its distribution and metabolism in the body.

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Exon skipping drug may get EU orphan drug status

AVI BioPharma, a drug development company in Corvallis, Ore., announced Oct. 14 that AVI4658, its exon skipping compound for Duchenne muscular dystrophy (DMD), has been recommended for orphan drug status in the European Union. This status gives financial incentives to companies that develop therapies for rare diseases, including exclusive marketing rights for up to 10 years.

At the same time, the company announced that the United Kingdom’s Gene Therapy Advisory Committee had granted provisional approval for a planned clinical trial for systemic delivery of AVI4658 to treat DMD.

The compound is now being tested in a clinical trial in a small number of boys with DMD in the United Kingdom, as a local injection into a foot muscle.

Exon skipping compounds, also known as “antisense,” target specific mutations (errors) in genes. They’re designed to cause cellular mechanisms that “read” genetic instructions to skip, or ignore, an error-containing section of a gene so that a functional protein can be made.

AVI4658 specifically targets exon (section) 51 of the gene for the dystrophin protein. Mutations in this gene can lead to DMD or Becker muscular dystrophy.

Compounds known as antisense can cause cells to skip (ignore) a flawed exon (section) of a gene, splice together the surrounding sections, and produce a nearly normal version of a protein, such as dystrophin.
Compounds known as antisense can cause cells to skip (ignore) a flawed exon (section) of a gene, splice together the surrounding sections, and produce a nearly normal version of a protein, such as dystrophin.

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Study of thymectomy in people with MG broadens criteria

A 200-participant, multicenter study to determine whether removal of the thymus gland (thymectomy) in people with myasthenia gravis (MG) allows for a reduced dosage or withdrawal of the steroid drug prednisone remains open. The study has broadened participation criteria to include people whose MG started within the last five years and who are between 18 and 65 years old, if they meet other study criteria. Contact Greg Minisman at the University of Alabama-Birmingham at (205) 934-4905.

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Researchers are seeking metabolic ‘signature’ of mitochondrial diseases

Investigators at Children’s Hospital of Philadelphia are seeking people with a definite biochemical and/or genetic diagnosis of a mitochondrial disease for a study to identify the changes in metabolism caused by this type of disorder. Being able to recognize a pattern of changes (metabolic “signature”) could aid in diagnosis and treatment. The study will primarily use previously collected muscle, skin and blood samples, although new blood or skin specimens may be requested. Contact Emily Place at Children’s Hospital of Philadelphia at (267) 426-9650 or

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Study of exercise in mitochondrial disease under way at UT Southwestern

A 50-person, two-year study to determine whether exercise benefits adults with mitochondrial myopathies is under way at the University of Texas Southwestern Medical Center in Dallas. Ronald Haller, who has had MDA support for research in this area, is the principal investigator. Participants must be 18 to 60 years old, have a diagnosis of mitochondrial myopathy based on DNA testing, be free of heart disease and high blood pressure, and meet other study criteria. Contact Marta Newby at (214) 345-4655 or

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Graduate student seeks parents’ views of genetic counseling for DMD, BMD

A questionnaire-based study to assess parents’ knowledge of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) and seek their views of the genetic counselng process is being conducted by Boston University genetic counseling student Molly McGinniss. An online questionnaire for parents of children with DMD or BMD, contact Molly McGinniss at (858) 414-1209 or

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SMA registry now allows Web-based participation

An international patient registry that collects anonymous data on children and adults with spinal muscular atrophy (SMA) for research purposes has expanded its format so that participants now can submit data online at the International SMA Patient Registry.

Those who would rather have paper forms mailed to them can contact Connie Garland at IU at (317) 274-5745 or

This project is supported by the Patient Advisory Group of the International Coordinating Committee for SMA Clinical Trials, which includes Families of SMA, Fight SMA, MDA, the SMA Foundation and other SMA advocacy groups.

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