Evaluation of Outcome Metrics in Alexander Disease

ConditionAlexander Disease

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorChildren's Hospital of Philadelphia

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Diagnosed with Alexander Disease

Disqualifiers

Other Leukodystrophies will not be enrolled

Trial population

Patients who have been diagnosed with Alexander Disease.

Trial design

Design model

Case-only

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

Primary outcomes

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.

Time frame

Up to 10 years

Secondary outcomes

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.

Time frame

Up to 10 years

Other outcomes

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.

Time frame

Up to 10 years

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.

Time frame

Up to 10 years

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.

Time frame

Up to 10 years

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

Time frame

Up to 10 years