Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
50 participants
OBSERVATIONAL
2022-08-24
2026-12-31
Brief Summary
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Detailed Description
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Previous studies have enrolled a very limited number of children with CDM.
The rationale for this study is to include a larger population of patients with CDM in order to determine developmental milestones, measures of physical and cognitive function and quality of life, and correlate functional outcome measures with potential biomarkers in CDM .
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Congenital Myotonic Dystrophy (CDM)
CDM group includes those aged neonate to 3 years, 11 months at enrollment. Individuals must have a diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (\<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for more than 72 hours; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\>1,500).
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (\<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for more than 72 hours; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\>1,500).
* Guardian is willing and able to sign consent and follow study procedures
Exclusion Criteria
* Significant trauma within one month
* Internal metal or devices (exclusion for DEXA component)
* History of bleeding disorder or platelet count \<50,000
* History of reaction to local anesthetic
59 Months
ALL
No
Sponsors
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Virginia Commonwealth University
OTHER
Responsible Party
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Principal Investigators
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Nicholas E. Johnson, MD
Role: PRINCIPAL_INVESTIGATOR
Virginia Commonwealth University
Locations
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University of California, Los Angeles
Los Angeles, California, United States
University of Kansas Medical Center
Fairway, Kansas, United States
University of Rochester Medical Center
Rochester, New York, United States
Virginia Commonwealth University
Richmond, Virginia, United States
Centro Clinico NeMO
Milan, , Italy
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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HM20023386
Identifier Type: -
Identifier Source: org_study_id
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