For Patients

LBSL Research Studies

LBSL was first discovered in 2004, but meaningful studies of the DARS2 gene — which determines LBSL — were not published until 2012. As a result of our efforts, the first LBSL research program launched in 2016 at Kennedy Krieger Institute in Baltimore. Today, we support LBSL research around the world. Here are a few study opportunities available to LBSL patients!

NOW ENROLLING: New LBSL Natural History Study

A new NIH-funded natural history study to explore potential biomarkers in LBSL is officially open for enrollment! Researchers are looking at lactate in the brain and spinal cord using magnetic resonance spectroscopy (MRS) scans and then track the lactate over five years to help identify potential biomarkers needed for future clinical trials. 

This new study is open to LBSL patients of all ages, and there is no radiation, no contrast and no sedation. To participate, an annual in-person visit to Kennedy Krieger Institute or Stanford University is required. Cure LBSL is able to offer travel grants for a limited number of domestic and international patients and caregivers.

Three women and a young girl in a wheelchair posing for a photo in front of a historical exhibit of John F. Kennedy. The exhibit features a large black-and-white image of Kennedy on the wall along with text and smaller photographs.
Learn more
Ask about travel grants

LBSL Natural History Studies

Cure LBSL helped launch the first LBSL natural history study 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.

Two women working at a desk with dual computer monitors, one showing a presentation with charts and graphs, the other displaying drawings of people.

Global Opportunities

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! Researchers send a kit for a virtual meeting to conduct tests to measure gait, balance, sway and more.

Learn more
A woman and a young girl smiling and looking at an object with a black sphere in a bright living room.

Cure LBSL produced this video for WebMD about the LBSL natural history study in the U.S.

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

Finland

This natural history study is run by University of Helsinki in Helsinki.

Learn More
A scientist wearing glasses and a smartwatch is working in a laboratory, looking into a microscope with blue gloves on. There are shelves with laboratory supplies and colorful containers in the background.

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

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