Evaluation of Outcome Metrics in Alexander Disease

Overview

The purpose of this study is to define the natural history of Alexander Disease, a leukodystrophy that causes neurological dysfunction. Investigators will obtain clinical outcome assessments to measure how the disease affects a patient's gross motor, fine motor, speech and language function, swallowing, and quality of life. Specimens are collected to measure glial fibrillary acidic protein (GFAP) levels in cerebrospinal fluid (CSF) and blood. The data obtained from this study will be used for the design of future treatment trials.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 2030

Detailed Description

Participants will be asked to complete physical examinations including physical therapy, occupational therapy, speech and language therapy, neurocognitive and swallowing assessments. Patients (or caretakers) may be asked to complete questionnaires as well. Specimen collection is an optional procedure. The study asks for participants to return at least once yearly to repeat assessments.

Clinical Trial Outcome Measures

Primary Measures

  • Change in Gross Motor Function Over Time
    • Time Frame: Up to 10 years
    • Total score and dimensional scores (rolling/supine, crawling/traveling, sitting, standing, and walking/running) will be calculated at each visit. Change in total and dimensional scores over time will be assessed.

Secondary Measures

  • Change in the Bruininks-Oseretsky Test of Motor Proficiency Over Time
    • Time Frame: Up to 10 years
    • Composite score and scores for the 4 sub-scales will be calculated at each visit. Change in composite and subscale scores over time will be assessed.

Participating in This Clinical Trial

Inclusion Criteria

  • Diagnosed with Alexander Disease Exclusion Criteria:

  • Other Leukodystrophies will not be enrolled

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Children’s Hospital of Philadelphia
  • Collaborator
    • Ionis Pharmaceuticals, Inc.
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Amy Waldman, MD, Principal Investigator, Children’s Hospital of Philadelphia
  • Overall Contact(s)
    • Amy Waldman, MD, 215-590-1719

Clinical trials entries are delivered from the US National Institutes of Health and are not reviewed separately by this site. Please see the identifier information above for retrieving further details from the government database.

At TrialBulletin.com, we keep tabs on over 200,000 clinical trials in the US and abroad, using medical data supplied directly by the US National Institutes of Health. Please see the About and Contact page for details.