Evaluation of Outcome Metrics in Alexander Disease (AxD Outcomes)

January 13, 2026 updated by: Children's Hospital of Philadelphia
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 Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

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.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.
  • Name: Amy Waldman, MD
  • Phone Number: 215-590-1719

Study Contact Backup

  • Name: Geraldine Liu, MA
  • Phone Number: 267-425-2063
  • Email: liug@chop.edu

Study Locations

  • United States
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • Children's Hospital of Philadelphia
        • Contact:
          • Geraldine Liu, MA
          • Phone Number: 267-425-2063
          • Email: liug@chop.edu
        • Principal Investigator:
          • Amy T Waldman, MD, MSCE

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients who have been diagnosed with Alexander Disease.

Description

Inclusion Criteria:

  • Diagnosed with Alexander Disease

Exclusion Criteria:

  • Other Leukodystrophies will not be enrolled

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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.
Up to 10 years

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
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.
Up to 10 years

Other Outcome Measures

Other Outcome Measures

For clinical trials, a planned measurement described in the protocol that is used to determine the effect of an intervention/treatment on participants. For observational studies, a measurement or observation that is used to describe patterns of diseases or traits, or associations with exposures, risk factors, or treatment. Types of outcome measures include primary outcome measure and secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Change in Peabody Developmental Motor Scales Over Time
Time Frame: Up to 10 years
Composite score and 4 sub-scales (reflexes, stationary, locomotion, object manipulation) will be calculated at each visit. Change in composite and subscale scores over time will be assessed.
Up to 10 years
Change in Rosetti Infant-Toddler Language Scale Over Time
Time Frame: Up to 10 years
Change in six sub-scales (Interaction-Attachment, Pragmatics, Gesture, Play, Language Comprehension, and Language Expression) will be assessed at each visit for age applicable patients.
Up to 10 years
Change in Swallowing Performance Over Time
Time Frame: Up to 10 years
A clinical swallow evaluation will be performed and assessed for change annually using an ordinal classification scale based on performance.
Up to 10 years
Change in Clinical Evaluation of Language Fundamentals Over Time
Time Frame: Up to 10 years
Changes in the comprehensive scores will be assessed at baseline and then annually at each visit which will be scheduled within ± 2 months around the specified time point, for up to 10 years
Up to 10 years
Change in Peabody Picture Vocabulary Test Over Time
Time Frame: Up to 10 years
Changes in comprehensive scores will be assessed at baseline and then annually at each visit which will be scheduled within ± 2 months around the specified time point, for up to 10 years
Up to 10 years
Change in Goldman-Fristoe Test of Articulation Over Time
Time Frame: Up to 10 years
Changes in standardized scores will be assessed at baseline and then annually at each visit which will be scheduled within ± 2 months around the specified time point, for up to 10 years
Up to 10 years
Change in Physical Health Quality of Life for Patients
Time Frame: Up to 10 years
Surveys will be used as a composite measure to understand a patient's physical health and how it may change during their disease course. An aggregate measure of survey scores will be analyzed at baseline and end of study. Compass-31, PedsQL-Gastrointestinal Symptom Scales, Patient Global Impression of Change, Patient Global Impression of Severity, Alexander Disease Patient Domain Impression of Change, Alexander Disease Patient Domain Impression of Severity, Most Bothersome Symptom, PROMIS Pediatric Physical Function-Mobility-Short Form, PROMIS Pediatric Physical Function-Pain Interference-Short Form, PROMIS Pediatric Physical Function-Upper Extremity- Short Form, Pediatric Bowel Movement Scoring Tool-Child Supplement II (PBMST), Caregiver Priorities and Child Health Index of Life with Disabilities (CP Child), Emesis Frequency Ladder, Multiple Sclerosis Quality of Life (MSQoL-54)
Up to 10 years
Change in Physical Health Quality of Life for Parents/Caregivers
Time Frame: Up to 10 years
Surveys will be used as a composite measure to understand a parents/caregiver physical health and how it may change during their child/spouse disease course. An aggregate measure of survey scores will be analyzed at baseline and end of study. Multiple Sclerosis Quality of Life (MSQoL-54)
Up to 10 years
Change in Mental Health Quality of Life for Patients
Time Frame: Up to 10 years
Surveys will be used as a composite measure to understand a patient's mental health and how it may change during their disease course. An aggregate measure of survey scores will be analyzed at baseline and end of study. PedsQL Quality of Life Inventory, Multiple Sclerosis Quality of Life (MSQoL-54)
Up to 10 years
Change in Mental Health Quality of Life for Parents/Caregivers
Time Frame: Up to 10 years
Surveys will be used as a composite measure to understand a parents/caregiver mental health and how it may change during their child/spouse disease course. An aggregate measure of survey scores will be analyzed at baseline and end of study. Multiple Sclerosis Quality of Life-54 (MSQoL-54), Hospital Anxiety and Depression Scale (HADS), and Euro-QoL 5 Dimensions (EQ5D-5L)
Up to 10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Children's Hospital of Philadelphia

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
University of Wisconsin, Madison
Ionis Pharmaceuticals, Inc.
Pennsylvania Department of Health

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Amy Waldman, MD, Children's Hospital of Philadelphia

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
January 26, 2016

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
December 1, 2030

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
December 1, 2030

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
February 19, 2016

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 16, 2016

First Posted (Estimated)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
March 21, 2016

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
January 15, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 13, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
January 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 16-012649

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Data and Samples will be shared with University of Wisconsin, Madison.

IPD Sharing Time Frame

Up to 10 years

IPD Sharing Access Criteria

Dr. Albee Messing and Tracy Hagemann, PHD are listed in the HIPAA section of the approved informed consent.

IPD Sharing Supporting Information Type

  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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