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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
Sponsor:
Information provided by (Responsible Party):
Stanford University

Tracking Information
First Submitted Date December 4, 2013
First Posted Date October 21, 2014
Last Update Posted Date October 21, 2014
Study Start Date December 2013
Estimated Primary Completion Date December 2016   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: October 16, 2014)
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.
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy
Official Title Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy
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.
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.

Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood Samples and Cerebrospinal Fluid (CSF) samples
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.
Condition Myotonic Dystrophy Type 1
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: October 16, 2014)
40
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2016
Estimated Primary Completion Date December 2016   (Final data collection date for primary outcome measure)
Eligibility Criteria

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:

-

Sex/Gender
Sexes Eligible for Study: All
Ages 8 Years to 17 Years   (Child)
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02269865
Other Study ID Numbers 28486
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Stanford University
Study Sponsor Stanford University
Collaborators Not Provided
Investigators
Principal Investigator: John W Day, MD, PhD Stanford University
PRS Account Stanford University
Verification Date October 2014