LBSL Research
Although LBSL was first discovered in 2004, meaningful studies of the DARS2 gene — which determines LBSL — were not published until 2012. As a result of our efforts, the first comprehensive LBSL research program launched in 2016 at Kennedy Krieger Institute in Baltimore. Today, we support LBSL research around the world.
Natural History Studies
Cure LBSL helped launch the first natural history study of LBSL in 2018, and international natural history study sites have since opened in Finland and the Netherlands. These studies are critical for researchers to learn more about the disease’s progression — and help establish meaningful outcomes for clinical trials in potential therapies.
United States
While this study is run by Kennedy Krieger Institute in Baltimore, you can participate in this natural history study from your own home! Learn more here!
Netherlands
This study is run by Academisch Medisch Centrum - Universiteit van Amsterdam in Amsterdam and is open to individuals age 16 and up. Learn more here!
Finland
This natural history study is run by University of Helsinki in Helsinki. Learn more here!
Cure LBSL produced this video for WebMD about the LBSL natural history study in the U.S.
Other Studies
Here are a few studies that enroll LBSL patients. Note: This list is not comprehensive!
MINI Study
The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) in Bethesda, Md., that aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. Learn more here!
Genetic and Physical Study of Childhood Nerve and Muscle Disorders
The Genetic and Physical Study of Childhood Nerve and Muscle Disorders at NIH in Bethesda, Md., aims to more about genetic nerve and muscle disorders that start in childhood. Learn more here!
LBSL Research Centers
Kennedy Krieger Institute
Since 2016 the research team at the Moser Center for Leukodystrophies at the Kennedy Krieger Institute in Baltimore, Maryland has made major progress in understanding of the disease process involved in DARS2 gene function and are gearing towards therapeutic targets for LBSL. The team has been working on human observational studies, as well as animal and cell studies testing several therapeutic strategies. The studies utilize wearable technology, neuroimaging, and machine learning methodologies. To summarize, scientists have made several new discoveries and believe that they are on the right path towards identifying therapeutics that they can then push forward towards clinical trials. All thanks to your donations!
Children’s Hospital of Philadelphia
Cure LBSL has joined forces with CureARS to fund a pre-clinical research project with the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP). The aim of this innovative research is to establish and study a full set of animal models for all 19 mitochondrial aminoacyl tRNA synthetase producing genes ("ARS genes" like DARS2 involved in LBSL) and to evaluate potential therapies in these models via high-throughput screening. Drug repurposing involves the study of existing drugs and using them for a medical condition different from what they were originally developed. This strategy offers an expedited and cost saving route to developing new clinical treatments in comparison to traditional drug development. High-throughput screening for this project will examine several thousand already approved FDA drugs and natural product compounds to test their comparative safety and effectiveness.