Alexander DiseaseAxD OutcomesNCT02714764
Evaluation of Outcome Metrics in Alexander Disease
An observational study of Alexander Disease, run by Children's Hospital of Philadelphia at 1 site in United States.
Trial summary
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Alexander Disease
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 26 Jan 2016to Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients who have been diagnosed with Alexander Disease.
Who may be able to join
- Diagnosed with Alexander Disease
Who cannot join
- Other Leukodystrophies will not be enrolled
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Amy Waldman, MD contact
United States1 site, 1 recruiting
- Recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Geraldine Liu, MA, 267-425-2063, liug@chop.edu
Amy T Waldman, MD, MSCE
About this study
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.
Read the 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.
- Conditions
- Alexander Disease
- Keywords
- Alexander Disease
- Medical subject headings
- Alexander Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Gross Motor Function Over Time
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.
Measured: Up to 10 years
Secondary outcomes (1)
Change in the Bruininks-Oseretsky Test of Motor Proficiency Over Time
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.
Measured: Up to 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Mar 2016 (estimated)
- Study start26 Jan 2016
- Primary completionDec 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Alexander DiseaseStudies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Collaborators
- Ionis Pharmaceuticals, Inc., University of Wisconsin, Madison, Pennsylvania Department of Health
- Responsible party
- Sponsor
- Investigators
- Amy Waldman, MD, Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02714764
- Sponsor's protocol ID
- 16-012649
- Acronym
- AxD Outcomes
- Status last verified
- Jan 2026
- First submitted
- 19 Feb 2016
- Last updated
- 15 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Data and Samples will be shared with University of Wisconsin, Madison.
Publications
Joung J, Gallison K, Sollee JJ, Vigilante N, Cooper H, Liu GW, Ballester L, Faig W, Waldman AT. Acquisition and Loss of Developmental Milestones and Time to Disease-Related Outcomes in Cerebral Alexander Disease. J Child Neurol. 2023 Dec;38(13-14):672-678. doi: 10.1177/08830738231210040. Epub 2023 Nov 3.
PubMed 37920915
Study at a glance
From the registry record, last updated by the sponsor on 15 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Outcome Metrics in Alexander Disease
- ClinicalTrials.gov ID
- NCT02714764
- Acronym / sponsor ID
- AxD Outcomes / 16-012649
- Conditions
- Alexander Disease
- Keywords
- Alexander Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Children's Hospital of PhiladelphiaUniversity, hospital or other
- Collaborators
- Ionis Pharmaceuticals, Inc., University of Wisconsin, Madison, Pennsylvania Department of Health
- Study start
- 26 Jan 2016 (actual)
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 21 Mar 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients who have been diagnosed with Alexander Disease.
Key inclusion criteria (1 listed)
- Diagnosed with Alexander Disease
Key exclusion criteria (1 listed)
- Other Leukodystrophies will not be enrolled
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Change in the Bruininks-Oseretsky Test of Motor Proficiency Over Time
Time frame: Up to 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Jan 2026.
- Derived from this study: PubMed 37920915Joung J, Gallison K, Sollee JJ, Vigilante N, Cooper H, Liu GW, Ballester L, Faig W, Waldman AT. Acquisition and Loss of Developmental Milestones and Time to Disease-Related Outcomes in Cerebral Alexander Disease. J Child Neurol. 2023 Dec;38(13-14):672-678. doi: 10.1177/08830738231210040. Epub 2023 Nov 3.
- Individual participant dataSharing planned: Yes. Data and Samples will be shared with University of Wisconsin, Madison.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Amy Waldman, MD contact
Amy Waldman, MD principal investigator
Children's Hospital of Philadelphia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alexander Disease, run by Children's Hospital of Philadelphia at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Amy Waldman, MD (215-590-1719), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Gross Motor Function Over Time (time frame: Up to 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02714764, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Jan 2026.