Who are the team members?
Manuela Corti, PhD; Asst Professor of Pediatrics and Associate Director of Powell Gene Therapy Center
S H Subramony, MD; Professor of Neurology and Pediatrics
Thomas Mareci, PhD; Professor, Department of Biochemistry and Molecular Biology
Mackenzi Coker, MS, CCC-SLP; Clinical Research Coordinator, Department of Pediatrics
Samantha Norman, MPH, BS; Clinical Research Coordinator, Department of Pediatrics
How long has the UF Team been working on FA?
Dr. Corti has worked on FA for over 10 years based on her interests in bringing gene therapy to several neuromuscular disorders. Dr. Subramony has been involved with FA for over 25 years as part of broad interest in inherited ataxias and was instrumental in developing early outcome measures. Dr. Mareci is an expert in MRI technology and has worked on imaging studies of ataxias for over 5 years. Mackenzie Coker and Sam Norman bring expertise in clinical research coordination in genetic diseases
Who was the first fellow FA researcher you met?
Dr. Subramony was the first FA researcher that Dr. Corti met. During the last 10 years, she has interacted with other FA researchers in the United States, Australia and Europe. Dr. Subramony has interacted with many FA researchers for many years including Drs Lynch, Perlman and Bidichandani and has been member of Collaborative Clinical Research Network in FA since its conception.
What got you interested in FA research?
Dr. Corti started a gene therapy program with Dr. Barry Byrne, the Powell Gene Therapy Center’s director, in FA after the mother of an FA affected individual, approached them about working toward developing gene therapy for FA. Through a community fundraiser, a pilot research program was initiated at the University of Florida. The UF FA research team has since been awarded multiple grants from patient foundations and industry partners. The ultimate aim of the program is to bring direct gene replacement to FA patients, at the same time offering opportunities for other research studies and clinical trials. These efforts are helped by the excellent facilities at UF, especially the Powell Gene Therapy Center (PGTC) and Clinical and Translational Science Institute (CTSI).
Dr. Subramony became involved in genetic ataxias in the late 1980s and 1990s, oversaw one of the early ataxia focused clinics at the University of Mississippi and evaluated and genotyped many families with FA and SCAs. After coming to UF in 2009, it was a natural event to collaborate with the Powell Gene Therapy Center.
What got you interested in imaging in FA?
Having realized the limitations of clinical outcome measures in FA, there is major interest in biomarkers with imaging being a prime candidate. At UF, this interest could be fostered easily by the presence of the research only facility, Advanced Magnetic Resonance Imaging and Spectroscopy facility (AMRIS), and the scientists associated with it. Dr. Mareci had already participated in multi-center MRI studies of spinocerebellar ataxias. This expertise was easily adapted for the TRACK-FA study. TRACK-FA is one of a number of other research imaging studies in genetic neuromuscular diseases at AMRIS, including cardiac imaging in FA.
What do you hope to achieve with TRACK-FA?
We fervently hope that the findings in this study will speed up and facilitate upcoming clinical trials of novel therapeutics including gene therapy in FA.
How would you like to encourage FA patients to participate at your site?
Gainesville is a wonderful “college” town with many sporting and cultural activities associated with the university. There are many museums and restaurants and if you time your visit, you can watch competitive University sports such as football. TRACK-FA visits take place in the Clinical and Translational Science building, a state-of-the-art research building which is uncluttered and pleasant, and the AMRIS imaging facility which is also utilized for research only and is beautiful in its own regards. Don’t forget that you can add a Florida vacation to your trip by driving to one the of beaches or to one of the many amusement parks in Orlando, all within 100 miles of Gainesville.
In addition, all FA patients coming to UF become family to us. We do everything we can to help FA patients to overcome some of the challenges that come with living with FA. We are always available to communicate with their medical providers, if needed, we are willing to help in identifying the best exercise program for them, we help with patient equipment needs to enhance safety and maintain autonomy. Furthermore, we are always available to discuss scientific questions related to upcoming research. And most importantly, we are always here for a laugh, a cry and simply for a chat.
How would a TRACK-FA visit look like at your site?
If coming for a TRACK-FA visit, you can look forward to a quality visit with our team. If it is your first visit to our site, you will be consented into the study by one of our study team members. From there we will collect some medical information, including your genetic confirmation and any medications you may be taking. We will then get some vitals as well as collect some blood from you.
Once the boring things are out of the way, we will then move into the functional and cognitive assessments. These assessments include the run of the mill mFARs, the SARA, the 9hpt, vision and speech testing. The cognitive assessments will include three brief questionnaires and we will discover your handedness. Your visit will be rounded out with the MRI which includes imaging of both the brain and spinal cord.
Read more about the study