Adrenomyeloneuropathy, Ataxia, Cerebellar Ataxia, LBSL, Leukodystrophy, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, Neurodegenerative Diseases
Conditions
Brief summary
The primary goal of this study is to address the need for targeted therapeutic interventions for impairments that impact walking in related neurodegenerative diseases.
Detailed description
This study will inform clinicians in quantitatively assessing baseline disease severity, selectively applying the appropriate exercise to the disease pathology, and measuring efficacy of the exercise intervention. As part of this overall goal, the aims are to: A. Determine feasibility of remotely supervised exercise programs. B. Optimize remote outcome measures for clinical monitoring and towards future clinical trials. C. Measure changes in balance and walking post intervention.
Interventions
BEHAVIORALHome exercise
Exercise to address limitations impacting walking
Sponsors
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
Pre-test post-test design. Based on pre-test assessments participants will be instructed in an individualized exercise program. Participants will participate in 18 hours of remotely supervised and home practice exercises.
Eligibility
Sex/Gender
ALL
Age
5 Years to 75 Years
Healthy volunteers
Yes
Inclusion criteria
* The eligibility criteria for males is X-linked adrenoleukodystrophy as determined by biochemical determination or genetic testing. * The eligibility criteria for females is X-linked adrenoleukodystrophy as determined by biochemical determination, genetic testing, or pedigree analysis. * The Leukoenceophalopathy with brainstem and spinal cord involvement and lactate elevation inclusion criterion is a confirmed DARS2 mutation through genetic analysis. * For people with cerebellar ataxia, people with diagnoses of cerebellar damage from stroke, tumor or degeneration will be included. Those with a genetically confirmed cerebellar disorder will be asked to provide their genetic testing to note their particular type of ataxia. * We will also include patients with other neurodegenerative diseases similar to these disorders as determined by chart review and clinical exam. Healthy Volunteers * Able to stand for 30 seconds without upper extremity support * Ambulatory (including use of a cane or a walker) * Able to walk for 2 minutes
Exclusion criteria
* Other medical or psychological conditions which in the clinical judgement of the investigator would interfere with acquiring the study information or performing the exercises safely including but not limited to: Uncontrolled hypertension, orthopedic conditions, diabetes, seizure disorder, peripheral vestibular loss, severe aphasia, dementia, pregnancy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in NeuroQOL lower extremity | baseline 12 weeks | Patient reported outcome |
Countries
United States
Contacts
CONTACTJennifer L Keller, PT, MS
CONTACTAmena Smith Fine, MD PhD
PRINCIPAL_INVESTIGATORJennifer Keller, PT
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Outcome results
None listed