Congenital Myotonic DystrophyASPIRE-DM1NCT05224778
DMCRN-02-001: Assessing Pediatric Endpoints in DM1
An observational study of Congenital Myotonic Dystrophy and CDM, run by Virginia Commonwealth University at 5 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 59 months
- Conditions the study is for
- Congenital Myotonic Dystrophy, CDM
- How many people
- 50 participants
- Where
- 5 sitesin 2 countries
- Study dates
- 24 Aug 2022to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 59 months
- All sexes
- No healthy volunteers
- Child
Study population: 30 children with CDM
Who may be able to join
- 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 join
- 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
Trial locations and contacts
5 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
5 sites in 2 countries
United States4 sites, 4 recruiting
- Recruiting
University of Kansas Medical Center
Fairway, Kansas, 66205
Cassidy Nelson, cnelson15@kumc.edu
Michaela Walker, mwalker20@kumc.edu
- Recruiting
University of California, Los Angeles
Los Angeles, California, 90095
Merve Kaleli, MKaleli@mednet.ucla.edu
Dennis Fernando, 310-825-3264, DeFernando@mednet.ucla.edu
- Recruiting
Virginia Commonwealth University
Richmond, Virginia, 23298
Shantel Kyles, shantel.brown@vcuhealth.org
Jodie Howell, jodie.howell@vcuhealth.org
- Recruiting
University of Rochester Medical Center
Rochester, New York, 14642
Jim Hilbert, james_hilbert@urmc.rochester.edu
Jeanne Dekdebrun, jeanne_dekdebrun@urmc.rochester.edu
Italy1 site, 1 recruiting
- Recruiting
Centro Clinico NeMO
Milan, 20162
Michela Nani, michela.nani@centrocliniconemo.it
Luca Mauro, luca.mauro@centrocliniconemo.it
About this study
Official title: Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
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.
Read the detailed description
Myotonic dystrophy type-1 (DM1) is an autosomal dominant disorder caused by a toxic CTG repeat expansion in the 3'UTR of the DMPK gene. DM1 is the most common adult-onset muscular dystrophy, with an overall prevalence of 1:8000. In approximately 10-20% of individuals with DM1, the onset of symptoms occurs at birth, which is known as congenital myotonic dystrophy (CDM).
Previous studies have enrolled a very limited number of children with CDM.
The rationale for this study is to include a larger population of patients with CDM in order to determine developmental milestones, measures of physical and cognitive function and quality of life, and correlate functional outcome measures with potential biomarkers in CDM .
- Conditions
- Congenital Myotonic Dystrophy, CDM
- Keywords
- Clinical Research, Myotonic dystrophy, Congenital Myotonic Dystrophy, CDM
- Medical subject headings
- Myotonic Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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). |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Through study completion at 18 months
Secondary outcomes (5)
Dysarthria Assessment
A blinded, standardized video assessment tabulating language milestones by a trained rater will be conducted at each visit.
Measured: Through study completion at 18 months
Vineland
The Vineland will be administered by an interviewer to ensure standardized intake of data. This assessment will capture the adaptive function, including gross motor and fine motor, as reported by the parent proxy.
Measured: Through study completion at 18 months
CCMDHI
The congenital and childhood myotonic dystrophy health index is a disease specific patient or proxy reported outcome measure specific to these conditions. The current study will utilize the proxy version.
Measured: Through study completion at 18 months
Domain Delta
This assessment asks parents for global impression of change related to the baseline visit and will be used as an anchoring measure for the statistical analyses.
Measured: Through study completion at 18 months
Gross Motor Function Measure (GMFM-88)
The GMFM assesses functional abilities like lying/rolling, sitting, crawling/kneeling, standing, and walking, running, and jumping.
Measured: Through study completion 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Feb 2022
- Study start24 Aug 2022
- Primary completionOct 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Myotonic DystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Virginia Commonwealth University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Nicholas E. Johnson, MD, Principal investigator, Virginia Commonwealth University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05224778
- Sponsor's protocol ID
- HM20023386
- Acronym
- ASPIRE-DM1
- Status last verified
- Jun 2026
- First submitted
- 25 Jan 2022
- Last updated
- 10 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
- ClinicalTrials.gov ID
- NCT05224778
- Acronym / sponsor ID
- ASPIRE-DM1 / HM20023386
- Conditions
- Congenital Myotonic Dystrophy, CDM
- Keywords
- Clinical Research, Myotonic dystrophy, Congenital Myotonic Dystrophy, CDM
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Virginia Commonwealth UniversityUniversity, hospital or other
- Study start
- 24 Aug 2022 (actual)
- Primary completion
- Oct 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 4 Feb 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Myotonic dystrophy type-1 (DM1) is an autosomal dominant disorder caused by a toxic CTG repeat expansion in the 3'UTR of the DMPK gene. DM1 is the most common adult-onset muscular dystrophy, with an overall prevalence of 1:8000. In approximately 10-20% of individuals with DM1, the onset of symptoms occurs at birth, which is known as congenital myotonic dystrophy (CDM).
Previous studies have enrolled a very limited number of children with CDM.
The rationale for this study is to include a larger population of patients with CDM in order to determine developmental milestones, measures of physical and cognitive function and quality of life, and correlate functional outcome measures with potential biomarkers in CDM .
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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). |
Who may qualify
- Ages
- Up to 59 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- 30 children with CDM
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To evaluate motor milestone attainment in individuals with CDM and ChDM and compare to typically developing children
Time frame: Through study completion at 18 months
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.
5 secondary outcomes
Dysarthria Assessment
Time frame: Through study completion at 18 months
Vineland
Time frame: Through study completion at 18 months
CCMDHI
Time frame: Through study completion at 18 months
Domain Delta
Time frame: Through study completion at 18 months
Gross Motor Function Measure (GMFM-88)
Time frame: Through study completion 18 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Jun 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Nicholas E. Johnson, MD principal investigator
Virginia Commonwealth University
5 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Myotonic Dystrophy and CDM, run by Virginia Commonwealth University at 5 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 10 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States, Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ruby Langeslay (804-828-8481, ruby.langeslay@vcuhealth.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To evaluate motor milestone attainment in individuals with CDM and ChDM and compare to typically developing children (time frame: Through study completion at 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Jun 2026.