Endpoint Assessment for Myotonic Dystrophy

(ASPIRE-DM1 Trial)

Recruiting at 6 trial locations

Overseen By Jennifer Raymond

Age: < 18

Sex: Any

Trial Phase: Academic

Sponsor: Virginia Commonwealth University

Disqualifiers: Non-DM1 illness, Significant trauma, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 1

50 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to improve how doctors assess and track symptoms in young children with congenital myotonic dystrophy type 1 (CDM), a rare genetic disorder affecting muscle function. Researchers seek to develop better tools and markers to understand and manage the condition in children. Babies and toddlers who exhibited symptoms of CDM shortly after birth and have a confirmed genetic link are suitable candidates for this study.

As an unphased trial, this study provides a unique opportunity for families to contribute to the development of better diagnostic tools and management strategies for CDM.

Do I have to stop taking my current medications for the trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.

Why are researchers excited about this trial?

Researchers are excited about this trial because it aims to provide new insights into how to measure treatment outcomes in children with myotonic dystrophy type 1 (DM1), a rare genetic disorder. Current treatment options for DM1 primarily focus on managing symptoms, as there is no cure. This study seeks to establish pediatric-specific endpoints, which could lead to more accurate assessments of treatment efficacy in young patients. By developing better ways to measure improvements, this trial has the potential to pave the way for more effective therapies tailored to the needs of children with DM1.

Who Is on the Research Team?

Nicholas E. Johnson, MD

Principal Investigator

Virginia Commonwealth University

Are You a Good Fit for This Trial?

Inclusion Criteria

I am under 4 years old.

My child was diagnosed with CDM based on symptoms and genetic tests.

My guardian can consent and follow the study's requirements.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Baseline Assessment

Initial assessments including blood sampling, motor milestone evaluation, and muscle biopsy

1-2 weeks

1 visit (in-person)

Ongoing Assessment

Regular assessments of motor milestones, dysarthria, and adaptive function using various standardized measures

18 months

Multiple visits (in-person)

Follow-up

Participants are monitored for safety and effectiveness after the main assessments

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• N/A

Who Is Running the Clinical Trial?

Virginia Commonwealth University

Lead Sponsor

Trials

732

Recruited

22,900,000+