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

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

Primary Outcome

Define the neuropsychological abnormalities in Myotonic Dystrophy type 1

Condition

Myotonic Dystrophy Type 1

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment

Start Date

December 2013

Completion Date

December 2016

Primary Completion Date

December 2016

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:

        -

Gender

All

Ages

8 Years - 17 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

John W Day, MD, PhD, 650-725-4341, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations

NCT ID

NCT02269865

Organization ID

Responsible Party

Sponsor

Study Sponsor

Stanford University

Study Sponsor

John W Day, MD, PhD, Principal Investigator, Stanford University

Verification Date

October 2014