Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

Track Natural History of LBSL patients using medical record review

Time frame: 4/1/2018 - 3/31/2023

Participants will be asked to provide all prior neurological, developmental and genetics medical records and available neuroimaging studies. We will first confirm eligibility by review of MRI and DARS2 mutation analysis. We will determine information about disease duration, rate of symptom progression and prevalence of specific neurological symptoms and the level of disability. We have derived an MRI severity score by modifying a standard leukodystrophy MRI scoring system, referred to as the Loes severity score (developed by Dr. Daniel Loes). This score is routinely used by radiologists. We will be reviewing and scoring participant neuroimages to better understand correlation with disease severity and progression.

Assessment of behavior in patients with LBSL using standardized neurocognitive surveys.

Time frame: 4/1/2018 - 3/31/2023

After the participant is enrolled, they will receive several neurocognitive assessments that will be sent digitally, including the Child or Adult Behavior Checklist (CBCL/ABCL). The CBCL/ABCL is one of most widely used measures in psychology to identify behavioral problems or mood disorders in children or adults, respectively. The scoring of this checklist is grouped by eight empirically based syndrome scales. These include aggressive behavior, anxious/depressed, attention problems, rule-breaking behavior, somatic complaints, social problems, thought problems, withdrawal/depression symptoms. The CBCL has standardized scores for children of the same gender and similar age and are interpreted as falling in the normal, borderline, or clinical range.

Assessment of social communication in patients with LBSL using standardized neurocognitive surveys.

Time frame: 4/1/2018 - 3/31/2023

After the participant is enrolled, they will receive several neurocognitive assessments that will be sent digitally, including the Social Communication Questionnaire (SCQ) The SCQ used by the International Autism Network will be used to screen individuals for Autism Spectrum Disorder and is completed by a caregiver. The SCQ is a 40 item, parent report screening measure that identifies whether a child has the associated symptoms of autism spectrum disorder.

Assessment of executive function in patients with LBSL using standardized neurocognitive surveys.

Time frame: 4/1/2018 - 3/31/2023

After the participant is enrolled, they will receive several neurocognitive assessments that will be sent digitally, including the Behavioral Rating Inventory of Executive Function (BRIEF).The BRIEF assesses impairment of executive function by evaluating eight clinical scales of executive function including inhibit, shift, emotional control, initiate, working memory, plan/organize, organization of materials, and monitor.The BRIEF exists for preschool children (2-5) and there are self-report versions for adolescents and adults.

Assessment of adaptive function in patients with LBSL using standardized neurocognitive surveys.

Time frame: 4/1/2018 - 3/31/2023

After the participant is enrolled, they will receive several neurocognitive assessments that will be sent digitally, including the Adaptive Behavior Assessment System version 3 (ABAS-3). The ABAS-3 survey assesses eleven essential skill areas in 3 major adaptive domains including conceptual, social and practical, and assists in diagnosing various developmental, learning, and behavioral disabilities. This complete battery of adaptive skills can be administered across the life span for ages Birth-89 years.

Assessment of quality of life in patients with LBSL using standardized surveys.

Time frame: 4/1/2018 - 3/31/2023

After the participant is enrolled, they will receive several quality of life assessments that will be sent digitally. Information on quality of life in LBSL will be collected using well-validated scales addressing physical, emotional, social and school functioning. Relevant scales include quality of life in children and adults with spasticity, quality of life in children and adults with ataxia, and quality of life in children and adults with chronic medical conditions.

Assessment of ataxia in patients with LBSL using wearable sensor technology and standardized clinical scales.

Time frame: 4/1/2018 - 3/31/2023

The study team will collect information about ataxia using wearable sensors and by administering the Standardized Assessment and Rating of Ataxia (SARA) scale at participant's homes. The SARA scale is an 8-item performance based scale that assesses upper and lower extremity ataxia. A total score of 0 indicates no ataxia and the maximum score of 40 indicates severe ataxia.

Assessment of balance in patients with LBSL using wearable sensor technology.

Time frame: 4/1/2018 - 3/31/2023

The study team will collect information about gait and balance ability over time using functional surveys as well as wearable sensors to be used at the participant's homes. This series of tests will require the participant to stand in several different poses for 2 trials of 30 seconds each to assess their balance. This will include standing with their eyes open and their feet apart and together, as well as with their eyes closed and their feet apart and together.

Timed Up and Go Test

Time frame: 4/1/2018 - 3/31/2023

This test will require the participant to sit in a chair. When the participant is instructed to, they will stand up from the chair, walk 3 meters in a straight line, turn around and walk back to the chair. The test duration and variables such as walking and turning speed will be obtained.

Long Walk Test

Time frame: 4/1/2018 - 3/31/2023

This test will require the participant to walk 22 feet in a straight line for a duration of 2 minutes. Variables such as walking and turning speed, stride length and step-to-step variability will be obtained.

What is a clinical trial?

A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.

Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.

Will I be compensated?

Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.

Will I receive a placebo instead of treatment?

When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.

Can I leave a trial if I change my mind?

Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.

How long does a clinical trial last?

Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.