Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy (CHRI)
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|ClinicalTrials.gov Identifier: NCT02269865|
Recruitment Status : Unknown
Verified October 2014 by Stanford University.
Recruitment status was: Recruiting
First Posted : October 21, 2014
Last Update Posted : October 21, 2014
|Condition or disease|
|Myotonic Dystrophy Type 1|
Given the prevalence of DM, and assistance from The Myotonic Dystrophy Foundation (letter), we anticipate full recruitment of 8-17 year old subjects with DM1. The genetic counselor will help recruit 20 DM1 subjects, and 20 comparably aged controls, all of whom will complete MRI and neuropsychological tests. We anticipate full participation in evoked potential and blood tests, but estimate 30% will permit a lumbar puncture for CSF evaluation - done at the LPCH Ambulatory Procedure Unit with sedation as necessary. In total 40 MRIs will be done over 2 years, or 20 annually. Testing of Subjects
All neuropsychological evaluations will be performed in the morning in attempt to standardize wakefulness and stamina. Dr. Day's assessment of clinical status (~45 min) utilizes the Stanford myotonic dystrophy questionnaire, the University of Rochester MDHI, and the muscular impairment rating scale (MIRS)57, and records vital signs, current medications, spirometer, and disease history and progression. Given the frequency of sleep disorders in DM, subjects will complete the Affiliated Sleep Questionnaire, an online collection of extensive information in standardized format (see letter Dr. Mignot). After the clinical and neuropsychological assessments the subject and family members will have lunch prior to the MRI(75 min). In the mid-afternoon subjects will have evoked potentials in the Electrodiagnostics Lab(~90 min) followed by a lumbar puncture (if consenting) and blood draw in the LPCH APU(90 min). Subjects return home the same day, and Ms. Paulose contacts them several days later for feedback.
|Study Type :||Observational|
|Estimated Enrollment :||40 participants|
|Official Title:||Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy|
|Study Start Date :||December 2013|
|Estimated Primary Completion Date :||December 2016|
|Estimated Study Completion Date :||December 2016|
- Define the neuropsychological abnormalities in Myotonic Dystrophy type 1 [ Time Frame: 2 years ]The outcome of these studies will determine detailed spatial localization of white matter changes in DM1 children for the first time, and will establish a quantitative baseline with which future studies can determine the time course of the changes. The outcome results will determine whether functional abnormalities (fMRI, neuropsychological function, and evoked potentials) increase as white matter integrity deteriorates, and will explore tract-specific alteration of these effects. Defining cellular pathophysiology and CNS biomarkers of neurological dysfunction in DM will determine disease mechanisms and treatment pathways, and facilitate design of clinical and preclinical studies.
Biospecimen Retention: Samples With DNA
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Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02269865
|Contact: John W Day, MD, PhDfirstname.lastname@example.org|
|United States, California|
|Lucile Packard Childrens Hospital, Stanford||Recruiting|
|Stanford, California, United States, 94304|
|Contact: John W Day, MD, PhD 650-725-4341 email@example.com|
|Principal Investigator:||John W Day, MD, PhD||Stanford University|