Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy

Study Overview
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Brief Summary
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Congenital Myotonic Dystrophy (CDM) is a multi-systemic, dominantly inherited disorder caused by a trinucleotide repeat expansion (CTGn) in the DMPK gene. CDM occurs when the CTGn increases between the adult myotonic dystrophy type-1 (DM1) parent and the child. Children with CDM present at birth with respiratory insufficiency, talipes equinovarus, feeding difficulties and hypotonia. There is a 30% mortality rate in the first year of life. As children grow, they are at risk for intellectual impairment, autistic features, gastrointestinal symptoms, and motor delay. The investigators will enroll children with CDM between ages 0-15 with visits at baseline and one year to evaluate appropriate physical functional outcomes, cognitive function and quality of life over time. Functional outcome measures will be correlated with potential biomarkers in the children. Completion of these specific aims will extend the understanding of disease progression in CDM and will provide the requisite information for successful therapeutic trials in children with DM.

Official Title
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Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy

Conditions
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Congenital Myotonic Dystrophy

Intervention / Treatment
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* Other: Natural history


Participation Criteria
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Eligibility Criteria
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CDM Group Inclusion Criteria: Age 0-15 yrs Diagnosis of CDM, based on symptoms and genetic testing of expanded trinucleotide repeats. Exclusion Criteria: Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of site investigator Significant trauma within one month Internal metal or devices Control Group Inclusion Criteria: Age 0-15 yrs Healthy children on no medication Exclusion Criteria: Any illness or situation that, in the opinion of the site investigator, has the possibility to interfere with study procedures DM type 1 and 2

Ages Eligible for Study
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Minimum Age: 0 Years
Maximum Age: 15 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| CDM<br>Children with Congenital Myotonic Dystrophy | Other: Natural history<br>* Longitudinal disease progression<br>|
| Control<br>Healthy Children | Other: Natural history<br>* Longitudinal disease progression<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Grip Strength | Measure of force generated by hand grip | 1 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Congenital and Childhood Onset Myotonic Dystrophy Health Index (CCMDHI) | Disease specific patient and parent reported outcome measure of quality of life | 1 year | 
| 6-minute walk | Assess distance walked over 6 minutes as a sub-maximal test of aerobic capacity/endurance | 1 year | 
| Behavior Rating Inventory of Executive Function (BRIEF) | An 86-item parent/caregiver-proxy and teacher-proxy rating form of executive function skills in every-day settings such as school, home, and social situations | 1 year | 
| Lip Force | Measure of force generation by orbicularis oris | 1 year |