DMCRN-02-001: Assessing Pediatric Endpoints in DM1

NCT05224778 | Recruiting

• 1 other identifier: HM20023386
• Study Type: observational
• Target: 50
• Locations: 2 countries
• Sites: 5

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

Keywords

Clinical Research; Myotonic dystrophy; Congenital Myotonic Dystrophy; CDM

Outcome Measures

Primary Outcomes (1)

• To evaluate motor milestone attainment in individuals with CDM and ChDM and compare to typically developing children

  Milestone Assessment using Peabody definitions: This survey would ask parents to assess the age of motor milestones in days, months of infant age. Birth history, including prematurity, ventilatory status, and feeding problems would also be collected on the CRF. Feeding and ventilatory support, as well as height and weight will be collected at each study visit.

  Through study completion at 18 months

Secondary Outcomes (5)

• Dysarthria Assessment

  Through study completion at 18 months

• Vineland

  Through study completion at 18 months

• CCMDHI

  Through study completion at 18 months

• Domain Delta

  Through study completion at 18 months

• Gross Motor Function Measure (GMFM-88)

  Through study completion 18 months

Other Outcomes (4)

• Correlate the functional outcome measures with potential biomarkers in CDM.

  Baseline

• Blood Sampling

  Baseline, month 12, month 18

• Muscle mass, DEXA

  Baseline, month 12, month 18

Study Arms (1)

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).

Eligibility Criteria

• Age: Up to 59 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

30 children with CDM

You may qualify if:

• 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

You may not qualify if:

• 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
• History of bleeding disorder or platelet count \<50,000
• History of reaction to local anesthetic

Sponsors & Collaborators

• Virginia Commonwealth University: lead

Study Sites (5)

University of California, Los Angeles

Los Angeles, California, 90095, United States

RECRUITING

University of Kansas Medical Center

Fairway, Kansas, 66205, United States

RECRUITING

University of Rochester Medical Center

Rochester, New York, 14642, United States

RECRUITING

Virginia Commonwealth University

Richmond, Virginia, 23298, United States

RECRUITING

Centro Clinico NeMO

Milan, 20162, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood and Tissue samples will be taken for biomarker development and retained for future research. No clinical diagnosis will be given to patients.

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Nicholas E. Johnson, MD

  Virginia Commonwealth University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ruby Langeslay

CONTACT

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

Jennifer Raymond

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 25, 2022
• First Posted: February 4, 2022
• Study Start: August 24, 2022
• Primary Completion (Estimated): October 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: June 11, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (4); IT (1)