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.)

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.

Santhera Pharmaceuticals ( www.san-thera.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 sperlman@metnet. ucla.edu; or Lisa Friedman at Children’s Hospital of Philadelphia at (267) 426- 7538 or friedmanl@email.chop.edu.

The Canadian Institutes of Health is studying parents of severely ill children.

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.

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 pre-implantation testing for DNM2-relat- ed 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.”

The Canadian Institutes of Health Research is funding a survey-based

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 dis- ^{tribution to affected families.} From left: Elizabeth DeChene, research coordinator and genetic

^{Beggs, who has an MDA} counselor in Beggs’ lab; Alan Beggs, MDA research grantee, grant to study the molecular Patrick and Sarah Foye with son, Adam, who has CNM.