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

NCT02269865 | Unknown

• 1 other identifier: 28486
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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.

Conditions

Myotonic Dystrophy Type 1

Outcome Measures

Primary Outcomes (1)

• Define the neuropsychological abnormalities in Myotonic Dystrophy type 1

  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.

  2 years

Eligibility Criteria

• Age: 8 Years - 17 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• 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.

You may qualify if:

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

Sponsors & Collaborators

• Stanford University: lead

Study Sites (1)

Lucile Packard Childrens Hospital, Stanford

Stanford, California, 94304, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood Samples and Cerebrospinal Fluid (CSF) samples

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• John W Day, MD, PhD

  Stanford University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

John W Day, MD, PhD

CONTACT

650-725-4341; jwday@stanford.edu

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 4, 2013
• First Posted: October 21, 2014
• Study Start: December 1, 2013
• Primary Completion: December 1, 2016
• Study Completion: December 1, 2016
• Last Updated: October 21, 2014

Record last verified: 2014-10

Locations

US (1)