DMCRN-02-001: Assessing Pediatric Endpoints in DM1
Key facts
- Who runs it
- Virginia Commonwealth University
- Where
- Fairway, Los Angeles, Richmond, and Rochester, United StatesSee the 4 sitesAlso in 1 other country, 1 site
- Trial code
- Status
- Recruiting
- People taking part
- 50 people, planned
- Started
- 24 Aug 2022
- Expected to end
- Dec 2026
- Type of study
- Observational
- Record updated
- 3 November 2026
Who can take part
- Age
- Up to 59 months
- Sex
- Women and men
- Healthy volunteers
- Cannot take part
The registry criteria, word for word
Show all 8 criteriaShow less
Who can take part
- 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
Who cannot take part
- Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of the site investigator
- History of reaction to local anesthetic
- History of bleeding disorder or platelet count <50,000
- Significant trauma within one month
- Internal metal or devices (exclusion for DEXA component)
Where in United States
Also in 1 other country, 1 site
- University of Kansas Medical CenterFairway, United StatesContact: Cassidy NelsonTaking people
- University of California, Los AngelesLos Angeles, United StatesContact: Merve KaleliTaking people
- Virginia Commonwealth UniversityRichmond, United StatesContact: Shantel KylesTaking people
- University of Rochester Medical CenterRochester, United StatesContact: Jim HilbertTaking people
About the trial
What the trial wants to find out
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.
The group in the trial
- 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).
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
- Record updated
- 3 November 2026