Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy (CHRI)

• ClinicalTrials.gov Identifier: NCT02269865
• Recruitment Status: Unknown
• First Posted: October 21, 2014
• Last Update Posted: October 21, 2014
• Sponsor: Stanford University
• Information provided by (Responsible Party): Stanford University

Study Description

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.

Study Design

• 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

Groups and Cohorts

Outcome Measures

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

Eligibility Criteria

• 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.

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:

-

Contacts and Locations

Contacts

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

Locations

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

Investigators

• Principal Investigator: John W Day, MD, PhD; Stanford University

More Information

• Responsible Party: Stanford University
• ClinicalTrials.gov Identifier: NCT02269865
• Other Study ID Numbers: 28486
• First Posted: October 21, 2014
• Last Update Posted: October 21, 2014
• Last Verified: October 2014

Additional relevant MeSH terms:

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