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Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy

Disease Information

Descriptive Information
Brief Title † Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
Official Title † Exercise Study of Function and Pathology for Women With X-ALD
Brief Summary The purpose is to see how X-linked adrenoleukodystrophy (X-ALD) is associated with strength and sensation using MRI, in women with X-ALD. The investigators will also see whether exercise can improve these symptoms for women with X-ALD.
Detailed Description X-linked adrenoleukodystrophy (X-ALD), a [sex-linked] progressive neurodegenerative disease, is caused by a defect in the ABCD1 gene. The disease is expressed in multiple ways, but the most common adult form is adrenomyeloneuropathy (AMN), which results in slowly progressive changes in muscle tone and weakness, sensory loss, and dysfunction of the autonomic nervous system. In a previous study the investigators linked abnormalities in the [brain/spinal cord] to lower extremity weakness in men with AMN; however, there have been no studies evaluating these relationships in women carriers (i.e., women with AMN). It is unknown, in women with AMN, how the pattern of damage in the brain and spinal cord relates to disability and if these patterns predict responsiveness to treatment. The investigators hypothesize that by using magnetization transfer (MT) and diffusion tensor imaging (DTI), two magnetic resonance imaging (MRI) modalities, to track particular changes in the brain and spinal cord will predict disability and additionally, who is likely to respond best to a training regimen. The investigators expect that these more advanced imaging techniques will be more sensitive and accurate quantitative measures of clinical motor function and women with greater loss in the spinal cord compared to the brain will benefit most from training to improve disability. To test this hypothesis, women with AMN will receive MRI scans at baseline and complete measures of global walking and lower extremity impairments of vibration sensation, spasticity, and strength at three time-points: baseline, 12 weeks, and 18 weeks after baseline. The group will participate in a resistive training program for 12 weeks. MRI data will be correlated to changes over time in measures of impairment to determine their relationships. The linking of this information will not only be important for better defining disability in women with AMN but it will also help to guide physicians and rehabilitation therapists in predicting who is likely to respond to rehabilitative interventions, as well as for optimizing the effects of future pharmacological interventions.
Study Phase N/A
Study Type † Interventional
Study Design † Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
Primary Outcome Measure † Change in maximal voluntary contraction of the hip flexors from baseline to end of training and to post-training
Secondary Outcome Measure †
Condition † X-linked Adrenoleukodystrophy
Intervention † Behavioralexercise training
Study Arms / Comparison Groups exercise Female carriers as well as healthy age and gender matched individuals will participate in an exercise paradigm.
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status † Behavioral
Estimated Enrollment † 31
Start Date † May 2012
Completion Date October 2014
Primary Completion Date October 2014
Eligibility Criteria † Inclusion Criteria: - confirmed diagnosis, X-ALD heterozygote carrier - no medical contraindication to participating in a strength training program - able to follow complex directions as determined by a score of ≤1 on a subset of questions taken from the NIH Stroke scale (Brott et al. 1989) - hip flexion strength: 6.6-15.8kg - hip extension strength: up to 18.3 kg - normal passive range of motion at hips/knees/ankles - able to walk ≥50m Exclusion Criteria: - Evidence of other neurological deficit that could interfere, such as previous stroke or muscle disease - congestive heart failure - cancer - orthopedic conditions - severe pain that precludes study participation - seizures - pregnancy - other medical condition that precludes participation in an exercise program, e.g., unstable angina, uncontrolled diabetes, uncontrolled hypertension Healthy controls have the same age and exclusion criteria as women with AMN except that they will not be carriers for X-ALD. They must have normal neurological function.
Gender Female
Ages 21 Years - 70 Years
Accepts Healthy Volunteers Accepts Healthy Volunteers
Contacts ††
Location Countries † United States
Administrative Information
NCT ID † NCT01594853
Organization ID NA_00045673
Secondary IDs ††
Responsible Party Principal Investigator
Study Sponsor † Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Collaborators †† European Leukodystrophy Association
Investigators † Principal Investigator: Kathleen M Zackowski, Ph.D., Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Information Provided By
Verification Date January 2015
First Received Date † May 7, 2012
Last Updated Date January 8, 2015
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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