Clinical trial NCT02714764: Evaluation of Outcome Metrics in Alexander Disease
Official title: Evaluation of Outcome Metrics in Alexander Disease
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Alexander Disease
Keywords: Alexander Disease
Lead sponsor: Children's Hospital of Philadelphia
Sponsor class: OTHER
Collaborators: name: Ionis Pharmaceuticals, Inc.
name: University of Wisconsin, Madison
name: Pennsylvania Department of Health
First posted: 2016-03-21
Enrollment: 200
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients who have been diagnosed with 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.

Eligibility criteria: Inclusion Criteria:

* Diagnosed with Alexander Disease

Exclusion Criteria:

* Other Leukodystrophies will not be enrolled

Primary outcomes:
measure: Change in Gross Motor Function Over Time
timeFrame: Up to 10 years
Secondary outcomes:
measure: Change in the Bruininks-Oseretsky Test of Motor Proficiency Over Time
timeFrame: Up to 10 years
Other outcomes:
measure: Change in Peabody Developmental Motor Scales Over Time
timeFrame: Up to 10 years
measure: Change in Rosetti Infant-Toddler Language Scale Over Time
timeFrame: Up to 10 years
measure: Change in Swallowing Performance Over Time
timeFrame: Up to 10 years
measure: Change in Clinical Evaluation of Language Fundamentals Over Time
timeFrame: Up to 10 years
measure: Change in Peabody Picture Vocabulary Test Over Time
timeFrame: Up to 10 years
measure: Change in Goldman-Fristoe Test of Articulation Over Time
timeFrame: Up to 10 years
measure: Change in Physical Health Quality of Life for Patients
timeFrame: Up to 10 years
measure: Change in Physical Health Quality of Life for Parents/Caregivers
timeFrame: Up to 10 years
measure: Change in Mental Health Quality of Life for Patients
timeFrame: Up to 10 years
measure: Change in Mental Health Quality of Life for Parents/Caregivers
timeFrame: Up to 10 years
Locations:
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
Study officials:
affiliation: Children's Hospital of Philadelphia
name: Amy Waldman, MD
role: PRINCIPAL_INVESTIGATOR
References: