UC Davis Health Clinical Studies

Comparison of 3 Modes of Genetic Counseling in High-Risk Public Hospital Patients

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The investigators will conduct a study in many locations with high-risk English-, Spanish-, and Cantonese-speaking patients. Patients will be assigned to three counseling modes: (a) in-person; (b) phone; or (c) video conference. All counseling sessions will be audio-taped. A sample of 90 tapes will be analyzed for counseling content and to identify 30 participants for in-depth interviews. Genetic counselors will be interviewed in depth for their perceptions of the strengths and limitations of each counseling mode.

Behavioral study
Any, age 18 to 70 years old

A Study of Experimental Medicine Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy

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Your child is being asked to take part in a research study because he has Duchenne muscular dystrophy (DMD). DMD is caused by a mutation (or error) in the gene for dystrophin. Dystrophin is a protein that keeps muscles healthy by maintaining structure of muscle cells. One type of mutation in the dystrophin gene is called a nonsense mutation. This type of mutation is the cause of DMD in about 15% of boys with the disease. A nonsense mutation in the dystrophin gene causes a premature stop signal. This premature stop signal tells the body’s protein production machinery to stop making the dystrophin protein in muscle before the protein is complete. The result is a shortened dystrophin protein that does not work and weakens muscles. Your child is being offered an opportunity to take part in this research study because he has DMD caused by a nonsense mutation in the dystrophin gene and has recently completed the PTC124-GD-020-DMD study. This study is an extension of the PTC124-GD-020-DMD study. The main goal of this study is to better understand whether experimental medicine ataluren can be safely given for a long period of time. The study will also provide additional information as to whether the actions of ataluren can result in improved walking, activity, muscle function, muscle fragility, upper limb function, pulmonary function, health-related quality of life (via PODCI) in boys with DMD. This research study will test an investigational drug called ‘ataluren’. The regulatory authorities have permitted use of ataluren in this study as part of a process to find out if it could one day be made more widely available for doctors to prescribe it for patients with DMD.

Drug study, Phase 3
Male, age 7 to 16 years old
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