Alexander Disease
Conditions
Keywords
Alexander Disease
Brief 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 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.
Interventions
None listed
Sponsors
Ionis Pharmaceuticals, Inc.
University of Wisconsin, Madison
Pennsylvania Department of Health
Children's Hospital of Philadelphia
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Diagnosed with Alexander Disease
Exclusion criteria
* Other Leukodystrophies will not be enrolled
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in Gross Motor Function Over Time | 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
| Measure | Time frame | Description |
|---|---|---|
| Change in the Bruininks-Oseretsky Test of Motor Proficiency Over Time | 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
| Measure | Time frame | Description |
|---|---|---|
| Change in Swallowing Performance Over Time | Up to 10 years | A clinical swallow evaluation will be performed and assessed for change annually using an ordinal classification scale based on performance. |
| Change in Clinical Evaluation of Language Fundamentals Over Time | 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 |
| Change in Peabody Picture Vocabulary Test Over Time | 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 |
| Change in Goldman-Fristoe Test of Articulation Over Time | 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 |
| Change in Peabody Developmental Motor Scales Over Time | 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. |
| Change in Physical Health Quality of Life for Parents/Caregivers | 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) |
| Change in Mental Health Quality of Life for Patients | 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) |
| Change in Mental Health Quality of Life for Parents/Caregivers | 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) |
| Change in Physical Health Quality of Life for Patients | 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) |
| Change in Rosetti Infant-Toddler Language Scale Over Time | 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. |
Countries
United States
Contacts
Primary ContactAmy Waldman, MD
Backup ContactGeraldine Liu, MA
Outcome results
None listed