Recruiting

Observational Study

Sponsor:

Virginia Commonwealth University

Code:

NCT06747884

Conditions

Congenital Myotonic Dystrophy

Childhood Myotonic Dystrophy

Myotonic Dystrophy

Eligibility Criteria

Sex: All

Age: 3 - 17

Healthy Volunteers: Not accepted

Study Details

Brief summary:

This is a natural history study to improve the types of assessments and biological samples that will be used in clinical drug trials in both congenital myotonic dystrophy and childhood myotonic dystrophy.

Conditions

Congenital Myotonic Dystrophy

Childhood Myotonic Dystrophy

Myotonic Dystrophy

Study ID

NCT06747884

Start date

Jun 6, 2025

Status verified date

Aug, 2026

Completion date

Jun, 2030

Anticipated

Primary completion date

Jun, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 3 - 17

Healthy Volunteers: Not accepted

Inclusion Criteria (Congenital Myotonic Dystrophy Group):

  • Age 5-17 years, 11 months at enrollment. Lower age limit not applicable for participants who have completed ASPIRE-DM1 protocol. Upper age limit not applicable for participants who previously participated in TREAT-01-001 (TREAT-CDM) study
  • A diagnosis of CDM, 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).
  • Written, voluntary informed consent must be obtained before any study related procedures are conducted.

Inclusion Criteria (Childhood Myotonic Dystrophy Group):

  • Age 3-17 years, 11 months at enrollment. Upper age limit not applicable for participants who previously participated in TREAT-01-001 (TREAT-CDM) study.
  • A diagnosis of ChDM, defined as: children having cognitive deficits, muscle weakness, myotonia that developed after age 1 and prior to age 10 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).
  • Written, voluntary informed consent must be obtained before any study related procedures are conducted.

Exclusion Criteria:

  • Any other non-DM1 illness that would interfere with the ability to undergo safe testing or would affect the interpretation of the results, in the opinion of the site investigator
  • Significant trauma within the past month
  • Internal metal or devices (exclusion for DEXA component)
  • Use of anticoagulants, such as warfarin or a direct oral anticoagulant (e.g., dabigatran) due to the increased risk of bleeding with biopsy
  • Platelet count <50,000
  • History of a bleeding disorder
  • Participation in a clinical trial involving an investigational product
  • History of adverse reaction to lidocaine (if participating in muscle biopsy)

Study Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Arms

Congenital myotonic dystrophy (CDM)

Children with congenital myotonic dystrophy. No intervention will be administered to either group.

Childhood Myotonic Dystrophy

Children with childhood myotonic dystrophy. No intervention will be administered to either group.

Primary outcome measure

  • Change in ambulation over 24 months as measured by the 10-Meter Walk/Run Test (10M WRT) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • Change in mobility (100-meter timed test) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • Change in Time to Stand (SUPINE TO STAND test) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • Change in Gross Motor Function (GMFM-88) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • Change in Handheld Dynamometry and Grip HAND-HELD DYNAMOMETRY (HHD) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • 9-HOLE PEGBOARD TEST (9HPT) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • VIDEO HAND OPENING TIME (vHOT) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • IOWA PERFORMANCE INSTRUMENT (IOPI) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • CLINICAL EVALUATION OF LANGUAGE FUNDAMENTALS, 5th edition (CELF-5) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • TIMED WATER SWALLOW TEST (TWST) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • DOMAIN DELTA QUESTIONNAIRE [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • INTELLIGIBILITY IN CONTEXT SCALE (ICS) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • PEDIATRIC QUALITY OF LIFE (PEDS QL) - GENERIC CORE SCALES [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • PEDIATRIC DAYTIME SLEEPINESS SCALE (PDSS) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • BEHAVIOR RATING INVENTORY OF EXECUTIVE FUNCTION -2 (BRIEF2) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • VINELAND ADAPTIVE BEHAVIOR SCALES THIRD EDITION (VINELAND-3) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • WECHSLER INTELLIGENCE SCALE FOR CHILDREN (WISC-V) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • AUTISM SPECTRUM SCREENING QUESTIONNAIRE (ASSQ) [ Time Frame: Baseline, Month 12 and Month 24 visits ]
  • REPETITIVE BEHAVIOR SCALE - REVISED (RBS-R) [ Time Frame: Baseline, Month 12 and Month 24 visits ]

Central Contacts and Locations

Central contacts

Ruby Langeslay, MPH

804-828-6318Ruby.Langeslay@vcuhealth.org

Locations

Virginia Commonwealth University

Recruiting

Richmond, Virginia, United States, 23298

Contacts

Shantel Kyles

804-828-3381shantel.brown@vcuhealth.org

Levi Headrick

levi.headrick@vcuhealth.org

Principal Investigator:

Nicholas E Johnson, MD, MSCI, FAAN

More Information

Sponsor

Virginia Commonwealth University

Last update posted

Aug 11, 2026

Last verified

Aug, 2026

Keywords

  • DM1
  • Childhood Myotonic Dystrophy
  • Congenital Myotonic Dystrophy
  • Myotonic Dystrophy
  • Myotonia
  • Dystrophy Myotonic
  • DMCRN
  • TREAT-EXT
  • TREAT CDM

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Virginia Commonwealth University on 2026-08-11.