DMCRN-02-001: Assessing Pediatric Endpoints in DM1

About

Brief Summary

The overall goal of the study is to establish valid clinical endpoint assessments for children with congenital myotonic dystrophy type 1 and childhood myotonic dystrophy type 1, and develop biomarkers for the condition.

Study Type

Observational

Eligibility

Gender

All

Healthy Volunteers

No

Minimum Age

N/A

Maximum Age

59 Months

Inclusion Criteria:

CDM group:
- 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
ChDM Group:
- Age 1 to 4 years 11 months at enrollment.
- A diagnosis of ChDM, which is defined as symptoms associated with DM1, absence of symptoms at birth, and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother.12 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 willing and able to sign consent and follow study procedures

Exclusion Criteria: (Both groups)

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

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