Cure SMA has awarded a $150,000 research grant to Bakri Elsheikh, MD, at the Ohio State University Wexner Medical Center, for his project, “Determine the motor unit response following SMN restoration in late-onset spinal muscular atrophy”.
Dr. Elsheikh and his team will study the effects of Nusinersen in adult SMA patients. By doing so, they hope to better understand how adults respond to the drug and the mechanisms which led to their responses.
The study results will help address a significant gap in our understanding of the effects of Nusinersen in adult forms of SMA. It will also help to establish the basis for rational additive combinatorial therapies to address aspects of motor unit function that are not adequately restored with late SMN restoration via Nusinersen.
Meet Dr. Elsheikh
Who are you?
I am an associate professor of Neurology at The Ohio State University. I also serve as the director of the EMG laboratory and the director of the clinical neurophysiology fellowship. I completed a neurology residency and fellowship in EMG/Neuromuscular medicine at OSU. I oversee the clinical care for adult SMA patients as part of a multidisciplinary clinic.
How did you first become involved with SMA research?
My mentor Dr. John Kissel introduced me to SMA research during my 2004 fellowship at OSU. I then developed a special interest in clinical research with a main focus on outcome measures and treatment of patients with SMA. I have served as co- investigator and principal investigator in the Project Cure SMA Investigator’s Network, in partnership with Families of SMA (Cure SMA). The studies conducted by the group successfully established reliability and validity of several outcome measures. The group also evaluated responses to therapeutic intervention in SMA patients of all age groups. I have also served as co- Principal Investigator in one of the largest adult SMA trials (VALIANT) conducted at OSU as a single site.
What is your current role in SMA research?
In 2006, I started a natural history study in adults with SMA that I am continuing today. The focus of this study is to provide better understanding of the long term disease course in addition to helping us determine the best outcome measures to use for therapeutic trials. We are testing several electro diagnostic measures to provide information about different aspects of motor unit function in addition to collecting data on measures of muscle strength, motor function, and quality of life. Following the approval of Spinraza, we established a procedural framework and helped put together a dedicated team to streamline access of adult SMA patients to treatment. Working with a great team of collaborators at OSU both in translational and clinical research, our current research will allow us to test the effect of Spinraza on strength and function in both ambulatory and non-ambulatory adults with SMA and to better understand how the medication lead to improvement.
What do you hope to learn from this research project?
The aims of the study are to: 1) determine the clinical effect of Nusinersen treatment in adults with SMA, 2) explore the physiological effects by which Nusinersen results in motor function improvement, and 3) better understand the natural history and best outcome measures for tracking response to Nusinersen in adults with SMA.
How will this project work?
Fifty-four adults with genetically confirmed SMA, both ambulatory and non-ambulatory, will be enrolled and followed for 14 months to assess the change in measures of muscle strength, motor, and pulmonary function following Nusinersen treatment. Data will be collected at baseline, 2 months, and then every four months for total of 14 months. Participants will have electrophysiological studies done to help understand the mechanisms behind their improvement.
What is the significance of your study?
The study results will help address the significant gap in our understanding of the effects of Nusinersen in adult forms of SMA. The results of this study will also help us to understand the effect of SMN protein restoration on motor unit function, thus establishing the basis for rational additive synergistic therapies to address aspects of motor unit function that are not adequately restored with late SMN restoration via Nusinersen.
Basic Research Funding
This grant to Dr. Elsheikh is part of $1,325,000 in new basic research funding that we’re currently announcing.
Basic research is the first step in our comprehensive research model. We fund basic research to investigate the biology and cause of SMA, in order to identify the most effective strategies for drug discovery. We also use this funding to develop tools that facilitate SMA research.