How SBMA affects autonomic functions
Reward Amount $54,000. Gianni Soraru, Md. Phd. - MND Center, Department of Neurosciences - University Hospital of Padua, Italy.
Summary Description
Recent research suggests that SBMA may also affect the autonomic nervous system, which controls functions like heart rate, digestion, and sweating. This research aims to explore how SBMA affects autonomic functions. A team of experts will study 30 confirmed SBMA patients and 20 healthy male controls. They will perform a variety of tests to assess different autonomic functions, including heart rate responses, blood pressure, sweating, and gastrointestinal functions. These tests will help understand how SBMA impacts the body’s ability to regulate essential functions beyond muscle control.
Bio
Dr. Sorarù graduated in Medicine in 1996 and specialized in Neurology in 2000. After several years as a Clinical Staff member in a Neurology Unit, he began his academic career at the University of Padova, where he is currently an Associate Professor of Neurology. His research career began in the laboratory of Prof. Corrado Angelini, focusing on muscle involvement in motor neuron diseases. During his PhD, he investigated the mitochondrial respiratory chain in ALS, discovering a link between mitochondrial complex activities and nNOS levels. He also studied skeletal muscle in patients and carriers of Kennedy’s disease, identifying an androgen-dependent myopathy. In collaboration with Prof. Maria Pennuto, Dr. Sorarù explored the therapeutic potential of beta-2 adrenergic receptor stimulation in SBMA. Their research showed that beta-agonists improve SBMA phenotypes in both mice and patient-derived myotubes. A pilot trial with clenbuterol in 20 SBMA patients demonstrated its positive impact on disease progression, leading to an ongoing randomized clinical trial (RCT). His interest in translational medicine has also led him to research genotype-phenotype correlations in ALS and the development of novel biomarkers for both ALS and SBMA. His clinical work in motor neuron diseases has contributed to a deeper understanding of these disorders and has involved his participation in over 15 clinical trials.
