Congenital Myotonic DystrophyTREAT-CDMNCT03059264
Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy
An observational study of Congenital Myotonic Dystrophy, run by Virginia Commonwealth University at 3 sites in 3 countries.
Trial summary
Congenital Myotonic Dystrophy (CDM) is a multi-systemic, dominantly inherited disorder caused by a trinucleotide repeat expansion (CTGn) in the DMPK gene. CDM occurs when the CTGn increases between the adult myotonic dystrophy type-1 (DM1) parent and the child. Read more about this study
- Who is it for?
- Ages 0 to 15 yearsHealthy volunteers can take part
- Conditions the study is for
- Congenital Myotonic Dystrophy
- What is being tested?
- Natural history
- How many people
- 100 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 14 Dec 2016to 27 Jan 2025
- How long will I take part?
- 2 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
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 0 to 15 years
- All sexes
- Healthy volunteers accepted
- Child
Study population: This study proposes a longitudinal evaluation of 100 children with CDM and 50 healthy controls, stratified into the following age cohorts: 0-2 years, 11 months; 3 years to 6 years, 11 months; and 7 years and older. The age cohorts are created to ensure an even distribution across all ages.
Who may be able to join
- Age 0-15 yrs
- Diagnosis of CDM, based on symptoms and genetic testing of expanded trinucleotide repeats.
- Age 0-15 yrs
- Healthy children on no medication
Who cannot join
- Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of site investigator
- Significant trauma within one month
- Internal metal or devices
- Control Group
- Any illness or situation that, in the opinion of the site investigator, has the possibility to interfere with study procedures
- DM type 1 and 2
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
United States1 site
Virginia Commonwealth University
Richmond, Virginia, 23298
Canada1 site
Pediatric Neuromuscular Research, Children's Hospital - LHSC
London, Ontario
About this study
Congenital Myotonic Dystrophy (CDM) is a multi-systemic, dominantly inherited disorder caused by a trinucleotide repeat expansion (CTGn) in the DMPK gene. CDM occurs when the CTGn increases between the adult myotonic dystrophy type-1 (DM1) parent and the child. Children with CDM present at birth with respiratory insufficiency, talipes equinovarus, feeding difficulties and hypotonia. There is a 30% mortality rate in the first year of life. As children grow, they are at risk for intellectual impairment, autistic features, gastrointestinal symptoms, and motor delay.
The investigators will enroll children with CDM between ages 0-15 with visits at baseline and one year to evaluate appropriate physical functional outcomes, cognitive function and quality of life over time. Functional outcome measures will be correlated with potential biomarkers in the children. Completion of these specific aims will extend the understanding of disease progression in CDM and will provide the requisite information for successful therapeutic trials in children with DM.
- Conditions
- Congenital Myotonic Dystrophy
- Being tested
- Natural history
- Medical subject headings
- Myotonic Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Natural historyOther
Longitudinal disease progression
| Study group | Role | What they receive |
|---|---|---|
| CDM | Children with Congenital Myotonic Dystrophy Receives: Other: Natural history | |
| Control | Healthy Children Receives: Other: Natural history |
What is being measured
The primary outcome is the main question the study is designed to answer.
Grip Strength
Measure of force generated by hand grip
Measured: 1 year
Secondary outcomes (4)
Congenital and Childhood Onset Myotonic Dystrophy Health Index (CCMDHI)
Disease specific patient and parent reported outcome measure of quality of life
Measured: 1 year
6-minute walk
Assess distance walked over 6 minutes as a sub-maximal test of aerobic capacity/endurance
Measured: 1 year
Behavior Rating Inventory of Executive Function (BRIEF)
An 86-item parent/caregiver-proxy and teacher-proxy rating form of executive function skills in every-day settings such as school, home, and social situations
Measured: 1 year
Lip Force
Measure of force generation by orbicularis oris
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Feb 2017
- Study start14 Dec 2016
- Primary completion8 Dec 2021
- Study completion27 Jan 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Congenital Myotonic DystrophyStudies of the same condition, open and under way.
- More trials run by Virginia Commonwealth UniversityThe sponsor's other registered studies.
- 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
- 100 participants (actual)
- Target duration
- 2 Years
Sponsor and investigators
- Lead sponsor
- Virginia Commonwealth University
- Sponsor type
- University, hospital or other
- Collaborators
- Fondazione Serena Onlus - Centro Clinico NeMO Milano, University of Western Ontario, Canada, Children's Health Research Institute
- Responsible party
- Sponsor
- Investigators
- Nicholas Johnson, MD, Principal investigator, Virginia Commonwealth University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03059264
- Sponsor's protocol ID
- HM20014211
- Acronym
- TREAT-CDM
- Status last verified
- Mar 2025
- First submitted
- 25 Jan 2017
- Last updated
- 11 Mar 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Patel N, Berggren KN, Hung M, Bates K, Dixon MM, Bax K, Adams H, Butterfield RJ, Campbell C, Johnson NE. Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy. Neurology. 2024 Mar 12;102(5):e208115. doi: 10.1212/WNL.0000000000208115. Epub 2024 Feb 15.
PubMed 38359368
Study at a glance
From the registry record, last updated by the sponsor on 11 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy
- ClinicalTrials.gov ID
- NCT03059264
- Acronym / sponsor ID
- TREAT-CDM / HM20014211
- Conditions
- Congenital Myotonic Dystrophy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants (actual)
- Lead sponsor
- Virginia Commonwealth UniversityUniversity, hospital or other
- Collaborators
- Fondazione Serena Onlus - Centro Clinico NeMO Milano, University of Western Ontario, Canada, Children's Health Research Institute
- Study start
- 14 Dec 2016 (actual)
- Primary completion
- 8 Dec 2021 (actual)
- Study completion
- 27 Jan 2025 (actual)
- First posted
- 23 Feb 2017 (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.
Congenital Myotonic Dystrophy (CDM) is a multi-systemic, dominantly inherited disorder caused by a trinucleotide repeat expansion (CTGn) in the DMPK gene. CDM occurs when the CTGn increases between the adult myotonic dystrophy type-1 (DM1) parent and the child. Children with CDM present at birth with respiratory insufficiency, talipes equinovarus, feeding difficulties and hypotonia. There is a 30% mortality rate in the first year of life. As children grow, they are at risk for intellectual impairment, autistic features, gastrointestinal symptoms, and motor delay.
The investigators will enroll children with CDM between ages 0-15 with visits at baseline and one year to evaluate appropriate physical functional outcomes, cognitive function and quality of life over time. Functional outcome measures will be correlated with potential biomarkers in the children. Completion of these specific aims will extend the understanding of disease progression in CDM and will provide the requisite information for successful therapeutic trials in children with DM.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 2 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| CDM | – | Other: Natural historyChildren with Congenital Myotonic Dystrophy |
| Control | – | Other: Natural historyHealthy Children |
Who may qualify
- Ages
- 0 to 15 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- This study proposes a longitudinal evaluation of 100 children with CDM and 50 healthy controls, stratified into the following age cohorts: 0-2 years, 11 months; 3 years to 6 years, 11 months; and 7 years and older. The age cohorts are created to ensure an even distribution across all ages.
Key inclusion criteria (4 listed)
- Age 0-15 yrs
- Diagnosis of CDM, based on symptoms and genetic testing of expanded trinucleotide repeats.
- Age 0-15 yrs
- Healthy children on no medication
Key exclusion criteria (6 listed)
- Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of site investigator
- Significant trauma within one month
- Internal metal or devices
- Control Group
- Any illness or situation that, in the opinion of the site investigator, has the possibility to interfere with study procedures
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Natural historyLongitudinal disease progression | Other | CDM, Control |
Primary outcome
Grip Strength
Time frame: 1 year
Measure of force generated by hand grip
4 secondary outcomes
Congenital and Childhood Onset Myotonic Dystrophy Health Index (CCMDHI)
Time frame: 1 year
6-minute walk
Time frame: 1 year
Behavior Rating Inventory of Executive Function (BRIEF)
Time frame: 1 year
Lip Force
Time frame: 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Mar 2025.
- Derived from this study: PubMed 38359368Patel N, Berggren KN, Hung M, Bates K, Dixon MM, Bax K, Adams H, Butterfield RJ, Campbell C, Johnson NE. Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy. Neurology. 2024 Mar 12;102(5):e208115. doi: 10.1212/WNL.0000000000208115. Epub 2024 Feb 15.
- 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. This study is not recruiting at the moment.
Nicholas Johnson, MD principal investigator
Virginia Commonwealth University
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Myotonic Dystrophy, run by Virginia Commonwealth University at 3 sites in 3 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 4 inclusion and 6 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: finished, as of the sponsor's last update on 11 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Canada, 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Grip Strength (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03059264, which also lists 1 linked publication.
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 11 Mar 2025.