PTC124 Trial Now Open to Boys With Duchenne
Muscular Dystrophy Who Have Nonsense Mutations
A clinical trial to test the effects of a laboratory-engineered
compound called PTC124 is now open to boys with Duchenne
muscular dystrophy (DMD). Prospective participants must
be at least 5 years old, be able to walk, have a "nonsense" mutation
(also known as a "premature stop codon") in the gene for the dystrophin protein, and meet other study criteria, according to PTC
Therapeutics Inc., a biotechnology company in South Plainfield,
N.J.
The company developed PTC124 as a synthetic compound designed
to allow muscle cells to ignore certain DMD-causing mutations
in the dystrophin gene. MDA awarded a research grant of $1.5 million
to PTC Therapeutics through its translational research program
for the compound's development. A phase 1 trial of PTC124 in healthy
subjects has shown that oral PTC124 is safe and well tolerated.
Nonsense mutations prematurely end the synthesis of a protein
— in this case dystrophin — leading to a small, nonfunctional
protein that can't perform its cellular role.
It's been estimated that some 15 percent of boys with DMD have nonsense
mutations as the underlying cause of their disease. Prospective
participants in the PTC124 trial can find out whether they have a nonsense
mutation through special DNA testing using blood cells conducted by the
University of Utah in Salt Lake City.
For more information about this specialized testing, see University of Utah Duchenne Muscular Dystrophy
Deletion and Mutation Screening.
Or call Karin Dent, genetic counselor at the University of Utah,
at (801) 581-6956.
Testing costs range from $400 to $1,175, but free testing can be
conducted if the family is participating in the Utah Dystrophinopathy
Project.
The locations for the PTC124 trial are Cincinnati Children's Hospital
Medical Center; Children's Hospital of Philadelphia; and the University
of Utah.
As of December 2005, only the Cincinnati Children's Hospital Medical
Center is open for recruitment. Pending approval from the appropriate
review committees, it is expected that the other sites will open in
the next few weeks.
For further information, go to the MDA Web site's Clinical Trials and Studies and enter "Duchenne" into the disease name box; or goto www.clinicaltrials.gov and enter "PTC124" in the search box.
You can also contact Kerri Donnelly at PTC Therapeutics, (908) 222-7000,
ext 112, or kdonnelly@ptcbio.com. |
