DMCRN-02-001: Assessing Pediatric Endpoints in DM1

Description

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.

Conditions

Congenital Myotonic Dystrophy, Childhood Myotonic Dystrophy, CDM, CHDM

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Study Overview

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Study Details

Study overview

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.

Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)

DMCRN-02-001: Assessing Pediatric Endpoints in DM1

Condition
Congenital Myotonic Dystrophy
Intervention / Treatment

-

Contacts and Locations

Los Angeles

University of California, Los Angeles, Los Angeles, California, United States, 90095

Fairway

University of Kansas Medical Center, Fairway, Kansas, United States, 66205

Rochester

University of Rochester Medical Center, Rochester, New York, United States, 14642

Richmond

Virginia Commonwealth University, Richmond, Virginia, United States, 23298

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * 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

Ages Eligible for Study

to 59 Months

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Virginia Commonwealth University,

Nicholas E. Johnson, MD, PRINCIPAL_INVESTIGATOR, Virginia Commonwealth University

Study Record Dates

2026-12