This article includes items about: Duchenne muscular dystrophy, limb-girdle muscular dystrophy, Becker muscular dystrophy, myotonic muscular dystrophy, fascioscapulohumeral muscular dystrophy, Charcot-Marie-Tooth disease, spinal muscular atrophy, Friedreich's ataxia, myasthenia gravis and centronuclear myopathy
For details about clinical trials and studies and disease registries, see Clinical Trials, and use the search boxes.
Wyeth Pharmaceuticals of Madison, N.J., has announced it will not continue developing MYO-029 for muscular dystrophy. The experimental compound is an antibody (immune-system protein) designed to stick to and interfere with the actions of myostatin, a protein that limits muscle growth.
Starting in 2005, Wyeth began conducting a clinical trial to test the safety of MYO-029 in adults with Becker MD, facioscapulohumeral MD and limb-girdle MD, with supplemental funding to the trial sites from MDA. In a paper published online March 11 in Annals of Neurology, Kathryn Wagner at Johns Hopkins University in Baltimore, and colleagues, said the compound was safe and well tolerated.
Wyeth has said it will continue to explore myostatin inhibition as well as other strategies for muscle disease. MDA will also continue funding research on various strategies to reduce myostatin. (See “Three new studies shed light.”)
Investigators continue to screen patients for an MDA-supported, phase 1 trial to transfer the alpha-sarcoglycan gene into a leg muscle in patients with type 2D limb-girdle muscular dystrophy (LGMD2D), which is caused by a deficiency of the muscle protein alpha-sarcoglycan. Those with LGMD who are at least 5 years old and meet other criteria can be screened to see if they have this type of LGMD at Nationwide Children’s Hospital in Columbus, Ohio. Contact Jerry Mendell (614) 722-5615 or Jerry.Mendell@nationwidechildrens.org; or Xiomara Rosales-Quintero at (614) 722-6961 or Xiomara.Rosales-Quintero@nationwidechildrens.org.
Insmed of Richmond, Va., is enrolling adults with type 1 myotonic dystrophy (MMD1) in a six-month, phase 2 trial of Iplex, a compound based on insulin-like growth factor 1 that was safe and well tolerated in a phase 1 study. This new trial will test the effects of Iplex on muscle mass, gastrointestinal function, endurance and thinking. Contact Insmed at (804) 565-3130 or firstname.lastname@example.org.
A trial of high-dose vitamin C (ascorbic acid) in type 1A Charcot-Marie-Tooth disease (CMT), a peripheral nerve disorder resulting from a duplication on chromosome 17, remains open to patients with CMT1A who are between 13 and 70 years old and meet other study criteria. The trial is funded in part by MDA, and sites are in Baltimore, Detroit and Rochester, N.Y. Contact Lisa Rowe at (313) 577-1689 or email@example.com.
Two multicenter studies are evaluating the effectiveness of sodium phenylbutyrate. One study is for children with type 1 spinal muscular atrophy (SMA) who are older than 2 months but younger than 2 years, and the other is for children with types 2 or 3 SMA who are at least 2 years old but younger than 12. The investigators, who are supported by the National Institutes of Health, will identify the maximum tolerated dosage of the drug and determine whether it increases levels of the genetic message (RNA) for the needed SMN protein. Contact Barbara Driver at (301) 738-3698 or BarbaraDriver@westat.com; or Kathryn Kersey at (301) 738-3655 or KathrynKersey@westat.com.
In a separate study, investigators at the University of Utah in Salt Lake City are testing sodium phenylbutyrate on infants who have no symptoms, but who have had a genetic test that predicts type 1 or type 2 SMA. They will assess the safety, tolerability and effects of the drug. Contact Sandra Reyna at (801) 585-3551 or firstname.lastname@example.org; or study coordinators at (801) 585-9717.
PTC Therapeutics of South Plainfield, N.J., is conducting a study to see how patients with Duchenne muscular dystrophy (DMD) or severe Becker muscular dystrophy (BMD) resulting from a specific type of mutation will respond to the drug PTC124 over the course of a year. Previous trials have lasted a shorter time and have shown promise in enabling boys with DMD to produce potentially functional dystrophin, the muscle protein they lack.
To be eligible for this 165-person, 37-center study, participants must have DMD or severe BMD caused by a nonsense mutation (also called a premature stop codon mutation); must be at least 5 years old and able to walk 75 meters (82 yards); and must meet other study criteria.
A large-scale, MDA-supported, multicenter study comparing high-dose, weekend-only prednisone in Duchenne muscular dystrophy (DMD) to the standard daily prednisone regimen commonly prescribed in this disease has been completed, and results are expected very soon. (No results were available at press time.)
Santhera Pharmaceuticals (www.santhera.com) has announced the opening of a phase 3 study of idebenone, a drug similar to coenzyme Q10 that improves energy production in cells, in children and adolescents 8 to 17 years old with Friedreich’s ataxia (FA).
Sites for this approximately nine-month trial are in Los Angeles and Philadelphia.
Contact Susan Perlman at the University of California-Los Angeles at (310) 794-1225 or email@example.com; or Lisa Friedman at Children’s Hospital of Philadelphia at (267) 426-7538 or firstname.lastname@example.org.
A 200-person, multicenter study to assess the value of removing the thymus in patients with myasthenia gravis (MG) who don’t have thymus tumors remains open. The thymus is an immune-system organ in the chest.
There are more than 50 sites for this study, which is funded by the National Institutes of Health. Participants must be between 18 and 60 years old, have experienced onset of MG within three years of study entry, and meet other study criteria.
Contact Greg Minisman at University of Alabama-Birmingham at (205) 934-4905.
The Canadian Institutes of Health Research is funding a survey-based study of parents caring for children with a life-limiting illness. Participants will be asked to fill out a questionnaire and will be invited to participate in follow-up interviews. Call (800) 810-0721 to request information.
Less than three years after MDA grantee Alan Beggs at Children’s Hospital Boston and a multinational group identified the dynamin 2 (DNM2) gene’s association with centronuclear myopathy (CNM) in some patients (in October 2005), the findings will be translated into a genetic test.
A few months earlier (in January 2005), another MDA-supported research group had linked defects in the same gene to Charcot-Marie-Tooth disease (CMT) in some patients.
The Collaboration, Education and Test Translation (CETT) Program, sponsored by the National Institutes of Health Office of Rare Diseases, has awarded a grant of $22,000 for development of a commercially available test to detect DNM2 gene mutations.
Included in the budget is $1,000 to be used to develop educational materials for distribution to affected families.
Beggs, who has an MDA grant to study the molecular genetics of congenital myopathies (muscle diseases present at birth), says the forthcoming test “is a great story of collaboration and synergy between families, research labs and diagnostic labs.” He added, “This development was really catalyzed by Pat and Sarah Foye [parents of a child with CNM], and the CETT grant and test development are largely the work of genetic counselor Melissa Dempsey and Clinical Molecular Genetics Laboratory director Soma Das at the University of Chicago.”
Beggs’ congenital myopathy research program is working with the University of Chicago Genetic Services Laboratories and the Foye family of Pinebrook, N.J., to develop the DNM2 test.
Expected to be available by late summer, the test will allow people affected by CNM or CMT to determine whether or not their disease is caused by a mutation in the DNM2 gene. Results will allow parents to estimate the risk of passing their disease to a child and will also make possible prenatal diagnosis and preimplantation testing for DNM2-related forms of CNM and CMT.
Gene sequencing for translation of the test is currently under way at the Chicago lab, but Beggs’ laboratory has a continuing collaborative role.
“We will continue to advise,” he says, “on interpreting test results and serving as a conduit of relevant new and unpublished information from the field as we learn of it.”