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NCT Number: NCT02714764

Evaluation of Outcome Metrics in Alexander Disease

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.

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Key information

Conditions

Alexander Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Demyelinating Diseases Genetic Diseases, Inborn Hereditary Central Nervous System Demyelinating Diseases Heredodegenerative Disorders, Nervous System Leukoencephalopathies Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location status: Recruiting

Location contact

Amy T Waldman, MD, MSCE

PRINCIPAL_INVESTIGATOR

Geraldine Liu, MA

CONTACT

[email protected]

267-425-2063

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Diagnosed with Alexander Disease

Exclusion criteria

  • Other Leukodystrophies will not be enrolled

Treatment and study plan

Primary outcomes

  1. 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 outcomes

  1. 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.

Other outcomes

  1. 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.

  2. 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.

  3. 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.

  4. 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

  5. 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

  6. 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

  7. 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)

  8. 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)

  9. 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)

  10. 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)

Study contacts

Contact information is provided by the study sponsor or research team.

Amy Waldman, MD

CONTACT

215-590-1719

Geraldine Liu, MA

CONTACT

[email protected]

267-425-2063

Sponsors and collaborators

Lead sponsor

Children's Hospital of Philadelphia

Other

Collaborators

  • Ionis Pharmaceuticals, Inc.
  • Pennsylvania Department of Health
  • University of Wisconsin, Madison

Registry information

Acronym: AxD Outcomes

Important dates

Study start
2016
Primary completion
2030
Study completion
2030
First posted
Mar 21, 2016
Registry last updated
Jan 15, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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