Evaluation of Outcome Metrics in Alexander Disease

NCT02714764 | Recruiting

• 1 other identifier: 16-012649
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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.

Conditions

Alexander Disease

Keywords

Alexander Disease

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Change in the Bruininks-Oseretsky Test of Motor Proficiency Over Time

  Up to 10 years

Other Outcomes (10)

• Change in Peabody Developmental Motor Scales Over Time

  Up to 10 years

• Change in Rosetti Infant-Toddler Language Scale Over Time

  Up to 10 years

• Change in Swallowing Performance Over Time

  Up to 10 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients who have been diagnosed with Alexander Disease.

You may qualify if:

• Diagnosed with Alexander Disease

You may not qualify if:

• Other Leukodystrophies will not be enrolled

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead
• Ionis Pharmaceuticals, Inc.: collaborator
• University of Wisconsin, Madison: collaborator
• Pennsylvania Department of Health: collaborator

Study Sites (1)

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Related Publications (1)

• Joung J, Gallison K, Sollee JJ, Vigilante N, Cooper H, Liu GW, Ballester L, Faig W, Waldman AT. Acquisition and Loss of Developmental Milestones and Time to Disease-Related Outcomes in Cerebral Alexander Disease. J Child Neurol. 2023 Dec;38(13-14):672-678. doi: 10.1177/08830738231210040. Epub 2023 Nov 3.

  PMID: 37920915 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood and cerebrospinal fluid

MeSH Terms

Conditions

Alexander Disease

Condition Hierarchy (Ancestors)

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

Study Officials

• Amy Waldman, MD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Amy Waldman, MD

CONTACT

215-590-1719

Geraldine Liu, MA

CONTACT

267-425-2063; liug@chop.edu

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 19, 2016
• First Posted: March 21, 2016
• Study Start: January 26, 2016
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: January 15, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: ICF
• Time Frame: Up to 10 years
• Access Criteria: Dr. Albee Messing and Tracy Hagemann, PHD are listed in the HIPAA section of the approved informed consent.

Locations

US (1)