Patient-Funded Research for Rare Brain Disorder at Kennedy Krieger Institute Reaches 1.6 Million

tags: Center for Leukodystrophies Clinical Program at the Moser Center for Leukodystrophies

BALTIMORE, February 28, 2020 – In honor of International Rare Disease Day, a young rare disease advocate and leukodystrophy patient, Ellie McGinn, presented her doctors at the Kennedy Krieger Institute’s Moser Center for Leukodystrophies with a check for $450,000, bringing the total she and her family helped raise for medical research of the rare brain disease, Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL), to $1.6 million in just four years.

“Ellie and her family’s commitment to not only raising critical funds for LBSL but also raising awareness of this rare disease has had a tremendous impact on the research we’re doing at the Institute,” said S. Ali Fatemi, MD, chief medical officer at Kennedy Krieger. “The McGinn’s work has allowed us to come closer to finding a cure for LBSL and connected other patients from around the world to our services. The relentless dedication of the McGinn family as LBSL disease advocates is truly admirable and inspires me and our research team every day.”

McGinn is one of 100 patients worldwide who have LBSL, a progressive condition impacting the brain and spinal cord; most often developing in children, affecting their ability to walk, stand and coordinate fine and gross motor skills. Through A Cure for Ellie, a non-profit organization dedicated to raising awareness and funds for research into LBSL, McGinn and her family have raised the funds through events such as 5K races, silent auctions and social media since 2016, when research into LBSL at the Moser Center began.

“We are confident that Dr. Fatemi and his team can and will find a cure for LBSL,” said Beth McGinn, Ellie’s mom. “Not only have they impacted Ellie’s life greatly, but they have done so for others from all over the world, and that alone drives our passion and dedication to continue supporting the research.”

Fatemi leads the research of LBSL at Kennedy Krieger’s Moser Center where molecular disease mechanisms are studied and new therapeutic targets are identified; innovative clinical research projects utilizing wearable technologies are developed; and machine learning tools are advanced to better understand the clinical course of this rare disorder. The funds from A Cure for Ellie allow the Center to train aspiring researchers and physicians to become experts in LBSL where the team has greater insight into the process of this rare disease. It is through this same funding that the Center’s team is rapidly pushing forward towards the ongoing development of new therapies with the hope that within the next five years, the Center will be able to commence clinical trials. 

“It is incredibly difficult to find therapies for rare diseases and to then move those therapies from bench to the bedside. On average the translation from discovery to having a working therapy takes two decades. However, while it may take us a long time, we believe that there is a clear path for a cure in LBSL and we will pursue this path with full force,” Fatemi said. “None of this would be possible without the generous donations we have received. We are so very grateful to the McGinn family, and everyone who has contributed, for their passion and commitment to helping us with this very important work.”  

About Kennedy Krieger Institute:   
Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain, spinal cord and musculoskeletal system, Kennedy Krieger Institute in the greater Baltimore/Washington, D.C. region serves 24,000 individuals a year through inpatient and outpatient clinics, home and community services, and school-based programs. Kennedy Krieger provides a wide range of services for children with neurological issues, from mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop, while at the same time pioneering new interventions and methods of early diagnosis.   

About A Cure for Ellie:
“A Cure for Ellie” is a non-profit organization dedicated to raising awareness and funds for research into LBSL. Founded in 2013, the organization is named after a young girl in Arlington, Virginia named Ellie McGinn. At around age two-and-a-half, Ellie began showing classic symptoms of LBSL – leg spasms, poor balance, falling and hand tremors.  At age three-and-a-half she was finally diagnosed. Ellie and her parents found help and hope at the Kennedy Krieger Institute in Baltimore, Maryland where research is currently underway to test and develop novel drug therapies that will hopefully lead to a cure. Ellie’s story was profiled nationally on NBC’s Today Show by Kathy Lee Gifford and Hoda Kotb in 2017 soon after her ninth birthday. ###   MEDIA CONTACT:   Grace Clark 410-243-3790 (office)


Grace Clark
410-243-3790 (office)