Recruiting

Observational StudyDMCRN-02-001: Assessing Pediatric Endpoints in DM1

Sponsor:

Virginia Commonwealth University

Code:

NCT05224778

Conditions

Congenital Myotonic Dystrophy

CDM

Eligibility Criteria

Sex: All

Age: 0 - 4

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Congenital Myotonic Dystrophy

CDM

Study ID

NCT05224778

Start date

Aug 24, 2022

Status verified date

Jun, 2026

Completion date

Dec, 2026

Anticipated

Primary completion date

Oct, 2026

Anticipated

Eligibility Criteria

Sex: All

Age: 0 - 4

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

50 participants

Anticipated

Interventions and Outcome Measures

Arms

Congenital Myotonic Dystrophy (CDM)

CDM group includes those aged neonate to 3 years, 11 months at enrollment. Individuals must have 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).

Primary outcome measure

To evaluate motor milestone attainment in individuals with CDM and ChDM and compare to typically developing children [ Time Frame: Through study completion at 18 months ]

Central Contacts and Locations

Central contacts

Ruby Langeslay

804-828-8481 ruby.langeslay@vcuhealth.org

Jennifer Raymond

804-828-6318 jennifer.raymond@vcuhealth.org

Locations

University of California, Los Angeles

Recruiting

Los Angeles, California, United States, 90095

Contacts

Merve Kaleli

MKaleli@mednet.ucla.edu

Dennis Fernando

310-825-3264 DeFernando@mednet.ucla.edu

Principal Investigator:

Perry Shieh, MD, PhD

University of Kansas Medical Center

Recruiting

Fairway, Kansas, United States, 66205

Contacts

Cassidy Nelson

cnelson15@kumc.edu

Michaela Walker

mwalker20@kumc.edu

Principal Investigator:

Jeffrey Statland, MD

University of Rochester Medical Center

Recruiting

Rochester, New York, United States, 14642

Contacts

Jim Hilbert

james_hilbert@urmc.rochester.edu

Jeanne Dekdebrun

jeanne_dekdebrun@urmc.rochester.edu

Principal Investigator:

Bohoon Lee, MD

Virginia Commonwealth University

Recruiting

Richmond, Virginia, United States, 23298

Contacts

Shantel Kyles

shantel.brown@vcuhealth.org

Jodie Howell

jodie.howell@vcuhealth.org

Principal Investigator:

Nicholas E. Johnson, MD

More Information

Sponsor

Virginia Commonwealth University

Last update posted

Jun 10, 2026

Last verified

Jun, 2026

Keywords

Clinical Research
Myotonic dystrophy
Congenital Myotonic Dystrophy
CDM

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Virginia Commonwealth University on 2026-06-10.