Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeUp to 5
SponsorNationwide Children's Hospital
About this trial
The goal of this observational study is to understand how young children with LAMA2-related dystrophy move and change over time. We will also learn about how this condition impacts other body systems.
Participants will undergo:
* Neuromuscular assessments * Blood collections * Swallowing and breathing assessments * Questionnaires
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Signed informed consent by the subject, parent(s) or legally authorized representative (LAR) and/or assent by the subject (when applicable).
Subject must be aged birth to less than 5.0 years of age at time of consent.
Absence of another confirmed genetic disease.
Willingness to maintain current exercise and/or physical therapy regimen for the duration of the clinical study.
Disqualifiers
Acute medical illness or hospitalization within 30 days prior to informed consent.
Participation in a previous trial of any investigational agent for LAMA2-RD within 1 month prior to informed consent, or use of any other investigational therapy (including off-label use of Losartan) within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 3 half-lives, whichever is longer) prior to informed consent, which in the opinion of the PI, may potentially confound results from this study.
Other significant medical condition, which in the opinion of the site Principal Investigator may confound interpretation of the clinical course of LAMA2- RD.
Trial population
Study population will be neuromuscular clinic patients of site principal investigators, as well as individuals identified by our genetic counselor.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Validate the change over 24 months using the Neuromuscular Gross Motor Outcome
The Neuromuscular GRO is a 50-item assessment that measures a child's gross motor function when lying down, sitting, crawling, walking, jumping, and climbing stairs.
Time frame
24 months2
Validate the change over 24 months using the Bayley Scales of Infant and Toddler Development™ 4th Ed (BayleyTM-4)
The Bayley assess four areas of development: Gross Motor, Fine Motor, Speech and Language, and Social. These results are compared to typically developing children ages 15 days to 42 months. The entire assessment takes between 1 and 3 hours, with breaks.
Time frame
24 months3
Validate the change over 24 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders
The CHOP-Intend includes 16-items to measure a child's ability to move their body in a lying down position, supported sitting, and assisted rolling.
Time frame
24 months4
Validate the change over 24 months using the Motor Function Measure Scale-Short Form
The MFM-20 contains 20 items to assess a child's motor function in sitting, lying down, standing, and completing tabletop activities.
Time frame
24 monthsOther outcomes
1
Validate CK Biomarkers
Blood will be drawn at each in-person visit to test Creatine Kinase, a muscle enzyme, and to store biomarkers for future research.
Time frame
From enrollment to the end of observation at 2 years.2
Muscle Ultrasound
Biceps or Quadriceps thickness will be measured in the middle of the muscle using standard ultrasound guidance.
Time frame
24 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Nationwide Children's Hospital
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
Ann & Robert H Lurie Children's Hospital of Chicago
Collaborator
Children's Hospital Medical Center, Cincinnati
Collaborator
University of Iowa
Collaborator
Washington University School of Medicine
Collaborator
Stanford University
Collaborator
University of Utah
Collaborator
University of Rochester
Collaborator
University of Pittsburgh
Collaborator
University of Texas, Southwestern Medical Center at Dallas
Collaborator
University of Minnesota
Collaborator
University of California, Los Angeles
Collaborator
Boston Children's Hospital
Collaborator
Source ClinicalTrials.gov