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Natural History and Outcome Measures in Alexander Disease

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ClinicalTrials.gov Identifier: NCT02714764
Recruitment Status : Recruiting
First Posted : March 21, 2016
Last Update Posted : September 25, 2017
Sponsor:
Collaborator:
Children's Research Institute
Information provided by (Responsible Party):
Children's Hospital of Philadelphia

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. The data obtained from this study will be used for the design of future treatment trials.

Condition or disease
Alexander Disease

Detailed Description:
Participants will be asked to complete physical examinations including physical therapy, occupational therapy, speech and language therapy, and swallowing assessments. Patients (or caretakers) may be asked to complete questionnaires as well. The study asks for participants to return at least once yearly to repeat assessments.

Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Natural History and Outcome Measures in Alexander Disease
Study Start Date : January 2016
Estimated Primary Completion Date : December 2026
Estimated Study Completion Date : December 2026





Primary Outcome Measures :
  1. Change in Gross Motor Function Over Time [ Time Frame: 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 Outcome Measures :
  1. Change in the Bruininks-Oseretsky Test of Motor Proficiency Over Time [ Time Frame: 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 Outcome Measures:
  1. Change in Peabody Developmental Motor Scales Over Time [ Time Frame: 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.

  2. Change in Rosetti Infant-Toddler Language Scale Over Time [ Time Frame: 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.

  3. Change in Swallowing Performance Over Time [ Time Frame: Up to 10 years ]
    A clinical swallow evaluation will be performed and assessed for change annually using an ordinal classification scale based on performance.

  4. Change in Clinical Evaluation of Language Fundamentals Over Time [ Time Frame: 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

  5. Change in Peabody Picture Vocabulary Test Over Time [ Time Frame: 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

  6. Change in Goldman-Fristoe Test of Articulation Over Time [ Time Frame: 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



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients who have been diagnosed with Alexander Disease.
Criteria

Inclusion Criteria:

  • Diagnosed with Alexander Disease

Exclusion Criteria:

  • Other Leukodystrophies will not be enrolled

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02714764


Contacts
Contact: Amy Waldman, MD 215-590-1719
Contact: Geraldine Liu, MA 267-425-2063 liug@email.chop.edu

Locations
United States, Pennsylvania
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Geraldine Liu, MA    267-425-2063    liug@email.chop.edu   
Contact: Amy Lavery, MSPH    267-425-2136    laverya@email.chop.edu   
Principal Investigator: Amy T Waldman, MD, MSCE         
Sponsors and Collaborators
Children's Hospital of Philadelphia
Children's Research Institute
Investigators
Principal Investigator: Amy Waldman, MD Children's Hospital of Philadelphia

Responsible Party: Children's Hospital of Philadelphia
ClinicalTrials.gov Identifier: NCT02714764     History of Changes
Other Study ID Numbers: 16-012649
First Posted: March 21, 2016    Key Record Dates
Last Update Posted: September 25, 2017
Last Verified: September 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Children's Hospital of Philadelphia:
Alexander Disease

Additional relevant MeSH terms:
Alexander Disease
Hereditary Central Nervous System Demyelinating Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Demyelinating Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Leukoencephalopathies
Metabolism, Inborn Errors