African-Americans between the ages of 18 and 30 without neurological or psychiatric diseases are invited to participate in a study investigating how emotion processing translates to human behavior. The study will take place in the Department of Neurology at the University of Iowa. This study takes up to 3 hours. Compensation is provided. Parking compensation is also provided.
Call (319) 384-9094
Heena Olalde, RN, MSN
In this project, researchers will examine the clinical presentation of muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan. Patients with dystroglycanopathies could have mutations in one of the following genes: FKRP, fukutin, POMT1, POMT2, POMGnT1 or LARGE. Symptoms range from congenital muscular dystrophy that can also involve the brain and eye, through an adult-onset limb girdle muscular dystrophy. The purpose of the study is to describe the early signs and symptoms of the dystroglycanopathies, and to gather information that will be required for future clinical trials. Knowledge gained from this study will improve the health care recommendations for people with dystroglycanopathies, and provide a baseline for further study.
The study involves a clinical evaluation at theUniversityofIowa. The evaluation includes muscle strength and motor ability testing, lung function testing, quality of life and activity assessment, and a review of past medical history. Portions of this evaluation will be repeated on a yearly basis. Financial assistance is available for travel toIowa City. Support is also available for genetic testing for people with a dystroglycanopathy diagnosis based on muscle or skin biopsy analysis.
This study is sponsored by the National Institutes of Health and is being directed by Dr. Katherine Mathews at the Universityof Iowa. If you are interested in participating or would like additional information, please contact the study coordinator Carrie Stephan R.N. by phone at (319) 356-2673 or by email at email@example.com
Duchenne/Becker muscular dystrophy (DBMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of DBMD in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is an open-label trial for patients with nonsense mutation dystrophinopathy who received ataluren in a prior PTC-sponsored study at a US clinical trial site. This trial will be conducted at sites in the US and will evaluate the long-term safety of ataluren, as determined by adverse events and laboratory abnormalities. Patients will receive study drug 3 times per day (at breakfast, lunch, and dinner). Study assessments will be performed at clinic visits during screening and every 12 weeks until the end of the study.
Email Carrie Stephan at Carrie-Stephan@uiowa.edu
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