Evaluation of Outcome Metrics in Alexander Disease

Alexander Disease Clinical Trial

— AxD Outcomes  

Official title:

Evaluation of Outcome Metrics in Alexander Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02714764
• Other study ID #: 16-012649
• Status: Recruiting
• Start date: January 26, 2016
• Est. completion date: December 2030

Study information

• Verified date: July 2023
• Source: Children's Hospital of Philadelphia
• Contact: Amy Waldman, MD
• Phone: 215-590-1719
• Is FDA regulated: No
• Study type: Observational

Clinical 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 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: December 2030
• Est. primary completion date: December 2030
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Diagnosed with Alexander Disease

Exclusion Criteria:

• Other Leukodystrophies will not be enrolled

Related Conditions & MeSH terms

• Alexander Disease

Locations

Country	Name	City	State
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania

Sponsors (4)

Lead Sponsor	Collaborator
Children's Hospital of Philadelphia	Ionis Pharmaceuticals, Inc., Pennsylvania Department of Health, University of Wisconsin, Madison

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Change in Peabody Developmental Motor Scales Over Time	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
Other	Change in Rosetti Infant-Toddler Language Scale Over Time	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
Other	Change in Swallowing Performance Over Time	A clinical swallow evaluation will be performed and assessed for change annually using an ordinal classification scale based on performance.	Up to 10 years
Other	Change in Clinical Evaluation of Language Fundamentals Over Time	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
Other	Change in Peabody Picture Vocabulary Test Over Time	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
Other	Change in Goldman-Fristoe Test of Articulation Over Time	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
Primary	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.	Up to 10 years
Secondary	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.	Up to 10 years