Project: A Phase II, Randomized, Placebo Controlled Trial of the Safety & Tolerability of Mycophenolate (CellCept) in Children with Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)
Mentor: Jonathan Mink, MD, PhD, Department of Neurology, Division of Pediatric Neurology
Jennifer Cialone, a fourth-year medical student, says her experience with the CTSI has been instrumental in shaping her future in medicine. The TL1 Predoctoral Training Program trainee spent a year doing research on Juvenile Batten disease, and is now applying to residencies. Cialone says that by immersing herself in the opportunities of her year-out experience, she realized her passion for pediatric neurology and has been inspired to pursue a career in academic medicine.
TL1 Predoctoral Training Program
The CTSI’s TL1 Predoctoral Training Program supports medical students interested in a year-out experience of mentored research in clinical or translational science. Trainees receive a stipend, and their mentors receive funds to help support research activities. Cialone was selected for the program in 2010, between her third and fourth year of medical school. She says she was inspired to apply for the award after doing research as a Molecular and Cellular Biology major at Vanderbilt University, where she received her Bachelor of Science degree.
“I had hoped to do a year of research during medical school to get exposure specifically to clinical research because I had done bench research in undergraduate [course work],” Cialone said. “I wanted exposure to a different type of research, and so I heard about the CTSI as a potential source for funding and a good opportunity to learn more about clinical research.”
Cialone’s project, entitled, “A Phase II, Randomized, Placebo Controlled Trial of the Safety & Tolerability of Mycophenolate (CellCept) in Children with Juvenile Neuronal Ceroid Lipofuscinosis (JNCL),” focused on how to measure different aspects of Juvenile Batten disease in patients. Children are usually diagnosed with this neurodegenerative disease between the ages of four and eight. The disease is a very rare, recessively inherited genetic condition. From the onset to the end of the disease, children progressively lose their ability to see, move, and reason. Cialone compares the cognitive decline to dementia. Unfortunately, the disease is terminal; most patients do not survive late adolescence or young adulthood.
Cialone and her colleagues use a rating scale developed several years ago to quantify the progression of the disease.
“Since we see these kids over the years multiple times, we’ve been able to use it sort of as a natural history type of tool, and we hope to use it as an outcomes measurement for clinical trials,” Cialone said.
The main focus of Cialone’s project was to see if it would be possible to administer the tool using telemedicine. The goal is to treat patients remotely so families do not need to travel long distances to clinical sites. Cialone says the tool worked successfully this way, and that telemedicine is being used more and more frequently for clinical diagnoses.
Cialone also participated in the first controlled clinical trial for Juvenile Batten disease, which began in the summer of 2011 at the University of Rochester Medical Center. The trial will investigate whether an immunosuppressant drug called mycophenolate mofetil is safe for children with Batten disease and if it can slow or halt the progression of the disease.
Benefits of Collaboration
“Research is not really an independent, alone kind of endeavor, and I really like working with people.”
TL1 trainees work with a mentor who specializes in their field of study. Cialone’s mentor, Dr. Jonathan Mink, Chair of the Pediatric Neurology Unit, specializes in movement disorders starting in childhood. Cialone says that while working on her project, Dr. Mink allowed her to grow at her own pace and take the work where she wanted it to go.
“I actually think it’s a really great opportunity to work with people who come from all different areas, different expertise, and different viewpoints. Being in that kind of community, I think, is really enriching and exciting.”
Other members of the team also had a positive impact on Cialone’s experience. They include Dr. Erika Augustine (a pediatric neurologist and co-principal investigator of the clinical trial), Dr. Jennifer Kwon (a pediatric neurologist), Dr. Heather Adams (a pediatric neuropsychologist), Nicole Newhouse (a project coordinator), Amy Vierhile (a pediatric nurse practitioner), and Dr. Frederick Marshall (an adult neurologist and principal investigator of the clinical trial), whose expertise in dementia was critical to the work the team has done in Batten disease.
“One thing I’d love to emphasize is how important it was that I had the group of people that I worked with because Jonathan Mink and everybody were so supportive,” Cialone said. “I think working with them was a huge part of why my year was successful in any way.”
Cialone’s passion for pediatric neurology is not purely intellectual; she says spending a year working with children diagnosed with Batten disease was emotional. A first-hand look at the courage and resiliency of her young patients inspired her to want to do more to help them.
Her first exposure to the disease was at the start of her research year when she attended the Batten Disease Support and Research Association (BDSRA) conference. She participated in a support group meeting, where children, parents, and researchers talked about current research, as well as the emotional aspects of the disease.
“I think meeting those families and seeing those children, I was drawn in many ways,” Cialone said. “The families are so strong, and what they do for their kids is amazing. They are so dedicated to helping out with the research, even if it might not help their child, help another one, which is very humbling.”
Cialone says she is amazed by the courage of the parents and the resiliency of the children.
“There’s one family with two sons [who are diagnosed with Batten disease] that I’ve met further along in their teenage years – which is further along into the disease – and they are impaired in a lot of ways that kids [with Batten disease] are impaired, but they have so much joy in so many of the things that they do,” she said. “There’s a video of the older boy – he’s part of the baseball team his dad coaches – and he got to hit one of the balls and run around the bases, and it was amazing to see.”
She says the most recent conference she attended was particularly emotional because she had spent the year learning about the disease and working closely with the children.
“Seeing a lot of the kids that were at the beginning of the disease and seeing the kids at the end of the disease, I think had a much more profound effect on me, but it also made me want to continue this because there’s so much more to do for the disease.”
Opportunities with the CTSI
In addition to the BDSRA conference, Cialone was able to attend other research conferences with the support of the CTSI. She says she especially values her experience at the 2011 Clinical and Translational Research and Education Meeting in Washington, D.C. because she was exposed to research in many different fields, not just pediatric neurology.
“It was unlike any of the conferences I had been to before, which had all been very focused on one area of medicine,” Cialone said. “It was neat because when I went and presented my poster, I got to talk to people who were from all different fields.”
She also stressed how valuable she found the experience of actually doing the research.
“I got a chance to explore research in a way that I had not done before – from working with a team to develop a project or understand how you work through questions in a research project, to analyzing data, [learning] more about statistics than I’d ever known before, and all the way through presenting posters and publishing papers.”
Cialone says she appreciated the talks and seminars sponsored by the CTSI, as well as the freedom to choose which to attend.
“I attended some of the lectures and I found them very helpful, but there were some that I wasn’t as interested in, so I was able to take that time and work on my project or go to clinic and see child neurology from a different aspect,” she said. “I was able to make the year what I wanted it to be, as opposed to following another structured schedule, and that, actually, I think is really important in making me more productive.”
Impact on Her Future
Cialone says participating in the TL1 Program helped her focus her future ambitions. After being exposed to both the clinical and research sides of the field, she realized she would like to blend seeing patients with doing research and teaching. Therefore, she is now pursuing a career in academic medicine. Working with her colleagues and seeing what their lives are like helped her realize that such a career is fulfilling and would make her happy.
“I think this experience with CTSI is absolutely a huge reason for why I’m going into this residency and why I have these ideals of academic medicine because I found that it was very do-able,” she said.
Currently, Cialone is interviewing for residency positions in pediatric neurology. The program is a combination of pediatrics training (two years) and neurology training (three years). Cialone says before participating in the TL1 Program, she knew she had an interest in pediatric neurology (she was exposed to the field during her second-year neuroscience course, and also during her third-year clerkships), but she wasn’t ready to commit to it for residency.
“It’s a pretty big commitment for the five-year program, and so having the chance to do research exposed me to research and let me know that academic medicine is really an interest of mine,” she said. “[Participating in the TL1 Program] was one of the best decisions I’ve made. It was amazing.”