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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
Information provided by (Responsible Party):
Stanford University

Brief Summary:
Study to focus on the defining and managing the neuropsychological abnormalities of myotonic dystrophy and to find out if the neuropsychological abnormalities have any correlation with changes seen on Magnetic Resonance Imaging.

Condition or disease
Myotonic Dystrophy Type 1

Detailed Description:

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.

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Study Type : Observational
Estimated Enrollment : 40 participants
Observational Model: Case-Control
Time Perspective: Prospective
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

Primary Outcome Measures :
  1. 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
Blood Samples and Cerebrospinal Fluid (CSF) samples

Information from the National Library of Medicine

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Ages Eligible for Study:   8 Years to 17 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
20 subjects with Myotonic Dystrophy type 1 aged 8 to 17 years and 20 controls who are healthy volunteers or siblings of affected subjects.

Inclusion Criteria:

  • 20 subjects with Myotonic Dystrophy type 1 aged 8 to 17 years and 20 controls who are healthy volunteers or siblings of affected subjects.

Exclusion Criteria:


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): NCT02269865

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Contact: John W Day, MD, PhD 650-725-4341 jwday@stanford.edu

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United States, California
Lucile Packard Childrens Hospital, Stanford Recruiting
Stanford, California, United States, 94304
Contact: John W Day, MD, PhD    650-725-4341    jwday@stanford.edu   
Sponsors and Collaborators
Stanford University
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Principal Investigator: John W Day, MD, PhD Stanford University
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Responsible Party: Stanford University
ClinicalTrials.gov Identifier: NCT02269865    
Other Study ID Numbers: 28486
First Posted: October 21, 2014    Key Record Dates
Last Update Posted: October 21, 2014
Last Verified: October 2014
Additional relevant MeSH terms:
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Myotonic Dystrophy
Muscular Dystrophies
Myotonic Disorders
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn