CDM, Congenital Myotonic Dystrophy
Conditions
Keywords
Clinical Research, Myotonic dystrophy, Congenital Myotonic Dystrophy, CDM
Brief summary
The overall goal of the study is to establish valid clinical endpoint assessments for children with congenital myotonic dystrophy type 1 and develop biomarkers for the condition.
Detailed description
Myotonic dystrophy type-1 (DM1) is an autosomal dominant disorder caused by a toxic CTG repeat expansion in the 3'UTR of the DMPK gene. DM1 is the most common adult-onset muscular dystrophy, with an overall prevalence of 1:8000. In approximately 10-20% of individuals with DM1, the onset of symptoms occurs at birth, which is known as congenital myotonic dystrophy (CDM). 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 .
Interventions
None listed
Sponsors
Virginia Commonwealth University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 59 Months
Healthy volunteers
No
Inclusion criteria
* Age neonate to 3 years 11 months at enrollment. * 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
* Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of the site investigator * 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| To evaluate motor milestone attainment in individuals with CDM and ChDM and compare to typically developing children | Through study completion at 18 months | Milestone Assessment using Peabody definitions: This survey would ask parents to assess the age of motor milestones in days, months of infant age. Birth history, including prematurity, ventilatory status, and feeding problems would also be collected on the CRF. Feeding and ventilatory support, as well as height and weight will be collected at each study visit. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Dysarthria Assessment | Through study completion at 18 months | A blinded, standardized video assessment tabulating language milestones by a trained rater will be conducted at each visit. |
| Vineland | Through study completion at 18 months | The Vineland will be administered by an interviewer to ensure standardized intake of data. This assessment will capture the adaptive function, including gross motor and fine motor, as reported by the parent proxy. |
| CCMDHI | Through study completion at 18 months | The congenital and childhood myotonic dystrophy health index is a disease specific patient or proxy reported outcome measure specific to these conditions. The current study will utilize the proxy version. |
| Domain Delta | Through study completion at 18 months | This assessment asks parents for global impression of change related to the baseline visit and will be used as an anchoring measure for the statistical analyses. |
| Gross Motor Function Measure (GMFM-88) | Through study completion 18 months | The GMFM assesses functional abilities like lying/rolling, sitting, crawling/kneeling, standing, and walking, running, and jumping. |
Countries
Italy, United States
Contacts
CONTACTRuby Langeslay
CONTACTJennifer Raymond
PRINCIPAL_INVESTIGATORNicholas E. Johnson, MD
Virginia Commonwealth University
Outcome results
None listed