|Jerry Mendell, MD|
|In 2004, Jerry Mendell, MD, was awarded the S. Mouchly Small Scientific Achievement Award from the Muscular Dystrophy Association, recognizing researchers who make significant contributions to neuromuscular disease research.|
Investigators with the Center for Gene Therapy at Nationwide Children's are currently conducting numerous clinical research studies in Neuromuscular Disorders including Muscular Dystrophy. Each study is described in detail below.
Interested in learning more information or enrolling in a study? You may also contact the study coordinator by calling (614) 722-2203.
The primary objective of this study is to assess the efficacy of 2 different doses of subcutaneous GSK2402968 versus placebo administered over 24 weeks in ambulant subjects with DMD. This drug is designed to induce skipping of exon 51 in the DMD gene.[read more...]
The secondary objectives are to evaluate the safety and tolerability, PK, QTc effects, and impact on functional assessments of 2 different doses of GSK2402968 versus placebo over 24 weeks in ambulant subjects with DMD and to assess safety, dystrophin half-life, and persistence of efficacy during the post treatment period.
The DMD gene produces a protein called dystrophin that is nonfunctional in the muscles of patients with Duchenne or Becker muscular dystrophy. The study is designed to determine whether DMD/BMD patients have cellular immunity to the dystrophin protein.[read more...]
Whether all children with DMD have cellular immunity to dystrophin is unknown. In some patients, immune cells may be virtually exclusive to muscle or found in such low frequency in peripheral blood that detection becomes very difficult. We intend to sample both blood and muscle to provide a much more accurate estimate of how many subjects have an immune response that will affect future gene replacement therapy.
This study requires a blood draw in order to see if patients with DMD/BMD produce an immune reaction against the nonfunctional dystrophin protein. If there is an immune response, the doctors will need to study it very precisely and may request the same amount of blood be drawn during subsequent clinic visits. Patients can say yes or no to these extra blood draws.
Depending on the blood test results, patients may also be asked to have a muscle biopsy. The cells from muscle tissue will then be tested to measure the immune response. An open biopsy is usually performed on the upper thigh, although in some cases other muscles may be targeted. The muscle biopsy may be performed under local anesthetic (in patients 13 years old and older) or under conscious sedation. Patients must sign a different consent form for the muscle biopsy if they chose to undergo this procedure.
The investigators seek to enroll over 60 patients with a known dystrophinopathy for the blood draw. Additionally, 30 of those patients will be asked to undergo a muscle biopsy.
If you would like to discuss these studies further, please contact:
Chelsea Rankin, Clinical Research Coordinator.
This is a prospective study of boys and young men. Participants will get a physical and muscle evaluation and be asked to fill out a quality of life survey. Also caregivers will be asked to fill out a caregiver burden scale. Subjects will be followed over a two year period, with visits every 6 months for a total of 5 visits. We have reached our patient total for this study and will not be enrolling anymore patients.[read more...]
This study is to help us find optimal and reliable clinical outcomes for DMD infants and young children ages 1 month through 5 years of age.[read more...]
We will test gross motor development (use of large muscle groups to perform tasks like walking, balancing, crawling) and language and cognitive development (information processing, language learning, and other aspects of brain development) as outcome measure in infants and young children with DMD. Subjects will also undergo ultrasounds of biceps and quadriceps to provide a measure of muscle damage in dystrophic muscle. Also a care giver assessment questionnaire will be administered at yearly intervals to primary care giver of subjects. We will enroll children from age 1 month through 3 years of age. Follow-up examinations will be performed at 6-month intervals for 2 years or through 5 years of age. A total of 6 children will be needed at Nationwide Children’s Hospital.
Nationwide Children’s Hospital is currently recruiting participants to determine the validity of several outcome measures that may be used for future clinical studies.[read more...]
Your participation will help design the tests to be performed to measure patient improvement in future clinical trials. We will also add your information to our list of patients who you would like to be contacted about upcoming clinical trials for their specific diagnosis.
Participants must be able to walk for 6 minutes and have a documented diagnosis of:
Sporadic Inclusion Body Myositis (sIBM) or
Becker Muscular Dystrophy (BMD)
Participants will be asked to perform timed functional tests such as standing up from a chair, walking for 6 minutes, and having muscle strength tested.
Interested individuals should contact:
or call (614) 722-6881
This study is being done to track the "natural history" of heart disease in DMD and BMD; compare it to loss of skeletal-muscle strength over time; and correlate it with specific dystrophin gene mutations.[read more...]
Participants will have a Doppler echocardiogram when they begin the study and at least once a year or more for standard of care. Skeletal-muscle testing will be done once per year. Participants will see a cardiologist as often as needed for standard of care.
Any DMD patient who is being seen in cardiology clinic on a regular basis for heart assessment will be offered to be part of the Natural History Study.
For either study, contact the site nearest you.
Nationwide Children's Hospital
University of California-Davis Medical Center
Children's Hospital Boston
University of Minnesota Medical Center
Washington University Medical Center
This NIH-funded project is directed at correlating mutations in the dystrophin gene with the severity and progression of disease in patients with Duchenne and Becker dystrophies.[read more...]
Study requirements include providing a blood sample for dystrophin gene mutation analysis, and visiting one of the participating centers for a yearly examination. Mutation testing is performed at no cost to the patient by collaborators at the University of Utah Genome Center, and patients receive a copy of their genetic testing results.
Participating centers include:
Additional information is available at www.dystrophin.org