DMCRN-02-001: Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)

  • STATUS
    Recruiting
  • End date
    Dec 18, 2025
  • participants needed
    50
  • sponsor
    Virginia Commonwealth University
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Updated on 7 October 2022
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myotonic dystrophy

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.

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). If the onset of symptoms occurs after birth and before age 10, this is known as childhood myotonic dystrophy (ChDM).

Previous studies have enrolled a very limited number of children with CDM and there is very little data to guide disease progression in ChDM.

The rationale for this study is to include a larger population of patients with CDM and ChDM, 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 and ChDM.

Details
Condition Congenital Myotonic Dystrophy, Childhood Myotonic Dystrophy, CDM, CHDM
Clinical Study IdentifierNCT05224778
SponsorVirginia Commonwealth University
Last Modified on7 October 2022

Eligibility

 Yes No Not Sure

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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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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