Featured in this issue: First U.S. exon-skipping trial opens * Utah researchers seek families with Ullrich CMD or Bethlem myopathy * Acceleron receives Fast Track, Orphan Drug designations for ACE031 * BioMarin abandons BMN195 development
For information about active trials in your disease, go to www.clinicaltrials.gov, select Search for Clinical Trials, and enter the disease name in the search box.
A study of an experimental “exon-skipping” compound called GSK2402968 — designed to treat people with Duchenne muscular dystrophy (DMD) caused by any of a specific set of genetic mutations — is now open at Nationwide Children’s Hospital in Columbus, Ohio. It’s the first study of this type of drug to be conducted in the United States and also one of the first DMD trials to test participants who are nonambulatory (unable to walk).
Funded by pharmaceutical company GlaxoSmithKline, the study will assess safety, tolerability and drug metabolism data in nonambulatory boys with DMD.
The drug, created by the Dutch biotechnology company Prosensa, in Leiden, the Netherlands, is designed to cause cells’ protein-building machinery to skip over (ignore) faulty genetic instructions so that functional dystrophin, the protein missing in DMD, can be made from the remaining error-free instructions.
Candidates for this trial must have been using a wheelchair full time for at least one year but no more than four years. Participants must have one of a particular set of mutations in the gene that causes DMD. Specifically, they must have an “out-of-frame” deletion that includes exons 13-50, exons 29-50, exons 43-50, exons 45-50, exons 47-50, exons 48-50, exons 49-50, exon 50 or exon 52.
For details, contact study coordinator Xiomara Quintero Rosales at (614) 722-6961 or Xiomara.Rosales-Quintero@nationwidechildrens.org.
Utah researchers seek families with Ullrich CMD or Bethlem myopathy
Families affected by either of two forms of congenital muscular dystrophy (CMD), known as Ullrich CMD and Bethlem myopathy, are invited to help with an MDA-supported data collection project at the University of Utah in Salt Lake City. The project’s investigators are seeking to correlate genetic and clinical (symptom-related) information to improve understanding of these diseases and treatment development.
Both Ullrich CMD and Bethlem myopathy result from deficiencies or abnormalities of a protein called collagen 6. Until recently, it was believed that Ullrich CMD and Bethlem myopathy were distinct disorders, but it’s now known that they both arise from mutations in any of the three collagen 6 genes: COL6A1 on chromosome 21; COL6A2 on chromosome 21; or COL6A3 on chromosome 2.
Pediatric neurologist Russell Butterfield at the University of Utah School of Medicine in Salt Lake City has MDA support to oversee the establishment of a database containing detailed genetic and clinical information from people with collagen 6 abnormalities and Ullrich or Bethlem types of CMD.
The study team will collect medical information from individuals and their medical records. There is no cost to families and no need to visit the researchers in Utah.
The investigators hope to gain a better understanding of the variation in the severity of symptoms and progression in these disorders; develop testable hypotheses about the diseases’ molecular causes; identify groups of patients who may become candidates for future clinical trials; and encourage interactions among patients, families and researchers.
Interested families should contact Russell Butterfield at email@example.com, or call (801) 587-9887. See also the Pediatric Motor Disorders Research Program at the University of Utah School of Medicine.
In August 2010, the biotechnology company Acceleron announced it had received “fast track” designation and Orphan Drug designation from the U.S. Food and Drug Administration (FDA) for development of its experimental drug ACE031, aimed at treating Duchenne muscular dystrophy (DMD).
The FDA’s Fast Track program is designed to expedite the review of new drugs intended to treat serious or life-threatening conditions. The Orphan Drug program gives companies economic incentives to develop drugs for rare diseases.
ACE031, which is being tested in a clinical trial in Canada, is designed to block the action of myostatin, a protein that inhibits muscle growth. The company’s target enrollment for this trial is 76 boys with DMD who are at least 4 years old, are walking, have been taking corticosteroids (such as prednisone or deflazacort) for at least six months, and who meet other study criteria. For details, e-mail firstname.lastname@example.org.
BioMarin abandons BMN195 development
On Aug. 2, 2010, the biotechnology company BioMarin announced it would discontinue development of BMN195, a molecule designed to increase production of utrophin, a protein that may compensate for loss of dystrophin in Duchenne muscular dystrophy (DMD). The experimental drug failed to reach adequate concentrations in the bloodstream of healthy volunteers, the company said.