RecruitingNot Applicable

DMCRN-02-001: Assessing Pediatric Endpoints in DM1

United States, Italy50 participantsStarted 2022-08-24

Plain-language 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.

Who can participate

Age range

59 Months

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

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

Timeframe: Through study completion at 18 months

Trial details

NCT IDNCT05224778

SponsorVirginia Commonwealth University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-10

Contact for this trial

Ruby Langeslay

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

View on ClinicalTrials.gov More Congenital Myotonic Dystrophy trials

Who can participate

Age range

59 Months

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.