Recruiting

Home Exercise

Sponsor:

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Code:

NCT05443906

Conditions

Neurodegenerative Diseases

Leukodystrophy

Ataxia

LBSL

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)

Eligibility Criteria

Sex: All

Age: 5 - 70+

Healthy Volunteers: Accepted

Interventions

Home exercise

Study Details

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.

Conditions

Neurodegenerative Diseases

Leukodystrophy

Ataxia

LBSL

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)

Study ID

NCT05443906

Start date

Feb 13, 2023

Status verified date

Mar, 2025

Completion date

Jul 30, 2027

Anticipated

Primary completion date

Jul 30, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 5 - 70+

Healthy Volunteers: Accepted

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

Study Design

Enrollment

30 participants

Anticipated

Intervention Model

Single group

Primary purpose

Treatment

Interventions and Outcome Measures

Arms

experimental: Home exercise

Individually designed home exercise program

Interventions

Home exercise

Exercise to address limitations impacting walking

Primary outcome measure

  • Change in NeuroQOL lower extremity [ Time Frame: baseline 12 weeks ]

Central Contacts and Locations

Central contacts

Jennifer L Keller, PT, MS

443-923-2716keller@kennedykrieger.org

Amena Smith Fine, MD PhD

443-923-3249finea@kennedykrieger.org

Locations

Kennedy Krieger Institute

Recruiting

Baltimore, Maryland, United States, 21205

Contacts

Amena Smith Fine, MD, PhD

443-923-3249finea@kennedykrieger.org

Jennifer Keller, PT

4439232716keller@kennedykrieger.org

More Information

Sponsor

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Last update posted

Mar 10, 2025

Last verified

Mar, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Hugo W. Moser Research Institute at Kennedy Krieger, Inc. on 2025-03-10.