Congenital Myotonic DystrophyTREAT-EXTNCT06747884
Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
An observational study of Congenital Myotonic Dystrophy and Childhood Myotonic Dystrophy, run by Virginia Commonwealth University at 4 sites in 2 countries.
Trial summary
This is a natural history study to improve the types of assessments and biological samples that will be used in clinical drug trials in both congenital myotonic dystrophy and childhood myotonic dystrophy. Read more about this study
- Who is it for?
- Ages 3 to 17 years
- Conditions the study is for
- Congenital Myotonic Dystrophy, Childhood Myotonic Dystrophy, Myotonic Dystrophy
- How many people
- 200 participants
- Where
- 4 sitesin 2 countries
- Study dates
- 6 Jun 2025to Jun 2030
- 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 3 to 17 years
- All sexes
- No healthy volunteers
- Child
Study population: The study will enroll up to 200 children with CDM and ChDM.
Who may be able to join
- Age 5-17 years, 11 months at enrollment. Lower age limit not applicable for participants who have completed ASPIRE-DM1 protocol. Upper age limit not applicable for participants who previously participated in TREAT-01-001 (TREAT-CDM) study
- A diagnosis of CDM, 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).
- Written, voluntary informed consent must be obtained before any study related procedures are conducted.
- Age 3-17 years, 11 months at enrollment. Upper age limit not applicable for participants who previously participated in TREAT-01-001 (TREAT-CDM) study.
- A diagnosis of ChDM, defined as: children having cognitive deficits, muscle weakness, myotonia that developed after age 1 and prior to age 10 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).
- Written, voluntary informed consent must be obtained before any study related procedures are conducted.
Who cannot join
- Any other non-DM1 illness that would interfere with the ability to undergo safe testing or would affect the interpretation of the results, in the opinion of the site investigator
- Significant trauma within the past month
- Internal metal or devices (exclusion for DEXA component)
- Use of anticoagulants, such as warfarin or a direct oral anticoagulant (e.g., dabigatran) due to the increased risk of bleeding with biopsy
- Platelet count <50,000
- History of a bleeding disorder
- Participation in a clinical trial involving an investigational product
- History of adverse reaction to lidocaine (if participating in muscle biopsy)
Trial locations and contacts
4 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
4 sites in 2 countries
United States3 sites, 3 recruiting
- Not yet recruiting
University of Kansas Medical Center
Kansas City, Kansas, 66160
Cassidy Nelson, 913-588-3653, cnelson15@kumc.edu
Jeffrey Statland, MD
- Not yet recruiting
Arkansas Children's Hospital
Little Rock, Arkansas, 72202
Steven Giompoletti, 501-364-2794, giompolettis@archildrens.org
Aravindhan Veerapandiyan, MD
- Recruiting
Virginia Commonwealth University
Richmond, Virginia, 23298
Shantel Kyles, 804-828-3381, shantel.brown@vcuhealth.org
Levi Headrick, levi.headrick@vcuhealth.org
Brazil1 site, 1 recruiting
- Not yet recruiting
Hospital das Clínicas, University of São Paulo School of Medicine (HCFMUSP)
Cerqueira César, São Paulo, 05403-010
Clara Gontijo Camelo, MD, PhD, 55 11 2661-8833, claragc@gmail.com
Clara Gontijo Camelo, MD, PhD
About this study
This is a natural history study to improve the types of assessments and biological samples that will be used in clinical drug trials in both congenital myotonic dystrophy and childhood myotonic dystrophy.
Read the detailed description
Congenital Myotonic Dystrophy (CDM) is a multi-systemic, dominantly inherited disorder caused by a trinucleotide repeat expansion (CTGn) in the DMPK gene. Children with CDM present at birth with respiratory insufficiency, talipes equiovarus, 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. Childhood onset myotonic dystrophy (ChDM) is similarly multisystem and is classified as onset after birth but before 10 years of age. It likely represents a less severe form of CDM.
Currently, there is an ongoing therapeutic trial in adults with DM1 using an antisense oligonucleotide to target the destruction of the CTG repeat. The ability to conduct this trial in children is directly limited by the lack of available data regarding appropriate clinical endpoints and biomarkers. Although the underlying mechanism is the same in adult DM1 and CDM, there are specific challenges to directly transferring outcome measures into the CDM population. First, our cross-sectional data demonstrates age-related improvement in several functional outcome measures, such as the 6-minute walk. Second, in the adult DM1 clinical trial, RNA splicing changes in the tibialis anterior muscle are a primary endpoint because they correlate with functional measures. However, our pilot data with described splicing changes does not clearly correlate with the adult clinical phenotype.
This study is designed to establish valid and reliable clinical outcome assessments for children with congenital and childhood myotonic dystrophy, and to develop biomarkers for the condition.
This study will enroll up to 200 children with CDM and ChDM at participating sites. No treatment will be administered as part of this study. Patients will receive standard of care as determined by their treating physician. Study visits will occur at Baseline, Month 12, and Month 24.
- Keywords
- DM1, Childhood Myotonic Dystrophy, Congenital Myotonic Dystrophy, Myotonic Dystrophy, Myotonia, Dystrophy Myotonic, DMCRN, TREAT-EXT, TREAT CDM
- Medical subject headings
- Myotonic Dystrophy, Myotonia
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) | Children with congenital myotonic dystrophy. No intervention will be administered to either group. | |
| Childhood Myotonic Dystrophy | Children with childhood myotonic dystrophy. No intervention will be administered to either group. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in ambulation over 24 months as measured by the 10-Meter Walk/Run Test (10M WRT)
The participant will be timed walking or running along a 10-meter course. It is scored by recording the total time taken to ambulate 6 meters (m) is recorded to the nearest hundredth of a second. 6 m is then divided by the total time (in seconds) taken to ambulate and recorded in m/s.
Measured: Baseline, Month 12 and Month 24 visits
Change in mobility (100-meter timed test)
Mobility will be measured using the 100 Meter Timed Test (100m) in which the participant is asked to complete 2 laps around 2 cones set 25 meters apart as quickly as safely possible, running if able. The total time in seconds is recorded from when the participant starts walking until they break the plane of the 100 meter mark (i.e., when any part of the body passes the 100 meter mark).
Measured: Baseline, Month 12 and Month 24 visits
Change in Time to Stand (SUPINE TO STAND test)
Participant will be timed transitioning from a supine position to standing. The participant will complete one trial of this test. The test measures the participant's ability to quickly rise from a supine position on the floor with arms at their sides, to full upright posture with arms at their sides. This should be performed without external support from another person, a device, or furniture. Results will be reported in seconds.
Measured: Baseline, Month 12 and Month 24 visits
Change in Gross Motor Function (GMFM-88)
The Gross Motor Function Measure (GMFM-88) is an assessment tool originally designed and evaluated to measure changes in gross motor function over time or with intervention in children with cerebral palsy. The GMFM assesses functional abilities including; lying/rolling, sitting, crawling/kneeling, standing, and walking/running/jumping. A four-point ordinal scale of measurement is used to assess each item, higher scores denote better performance. A score of 4 on an item indicates a consistently normal response, a score > 4 indicates persistent hypertonus, and a score < 4 indicates various degrees of hypotonus.
Measured: Baseline, Month 12 and Month 24 visits
Change in Handheld Dynamometry and Grip HAND-HELD DYNAMOMETRY (HHD)
Maximum hand and grip strength will be assessed using a myometer. The participant will be asked to squeeze a handheld tool. When performing a hand-held dynamometry (HHD) test, you generally want a high score as it indicates greater muscle strength in the tested area; a higher number signifies a stronger muscle contraction.
Measured: Baseline, Month 12 and Month 24 visits
9-HOLE PEGBOARD TEST (9HPT)
The Nine-Hole Peg Test (9-HPT) is a standardized, quantitative assessment used to measure finger dexterity. Test is measured in seconds.
Measured: Baseline, Month 12 and Month 24 visits
VIDEO HAND OPENING TIME (vHOT)
. The participant will squeeze the hand for three seconds then open the hand as quickly as possible. A video recording of the procedure will be obtained showing the forearm and hand but not the face. Recordings will later be assessed by a blinded reviewer to determine the hand opening time. The time is recorded in seconds.
Measured: Baseline, Month 12 and Month 24 visits
IOWA PERFORMANCE INSTRUMENT (IOPI)
The IOPI consists of a pressure bulb attached to a manometer. The pressure bulb will be placed on the participant's tongue. Participants are asked to push the bulb against the hard palate on the alveolar ridge just behind the upper central incisors for 3-5 seconds. This test should be repeated 3 times with a 30-second interval between trials. The maximum pressure is recorded.
Measured: Baseline, Month 12 and Month 24 visits
CLINICAL EVALUATION OF LANGUAGE FUNDAMENTALS, 5th edition (CELF-5)
The mean score is 100, with a standard deviation of 15, meaning that standard scores between 85-115 are within the normal range. You can calculate the level of severity for delayed skills according to how many deviations below the mean a client's score is: Mild: 70-85, Moderate 55-70 , Severe: 55 and lower.
Measured: Baseline, Month 12 and Month 24 visits
TIMED WATER SWALLOW TEST (TWST)
Participants will be given 3 ounces (90 mL) of water to drink from a clear cup. Safety of completing this test will be determined by the site PI with input from the parents/caregivers. Participants will be asked to drink the water as they normally would, without interruption. Straws may be used, if that is preferred. Participants will be asked to say aloud "I'm done" when they feel they've completed the task with a written cue provided as a reminder.26,27 Testing will be recorded for later quantification of time needed for test, volume ingested, volume/swallow, time/swallow, and swallow capacity (mL/swallow).
Measured: Baseline, Month 12 and Month 24 visits
DOMAIN DELTA QUESTIONNAIRE
A "domain delta questionnaire" is a patient-reported questionnaire used in clinical research to assess how much a patient perceives their health status has changed across specific domains (like mobility, overall health, or upper limb function) between two points in time, essentially asking them if they feel they have gotten better, worse, or stayed the same in each area compared to a baseline measurement; it's a way to measure perceived change in health related quality of life over time.
Measured: Baseline, Month 12 and Month 24 visits
INTELLIGIBILITY IN CONTEXT SCALE (ICS)
The ICS is a brief, 7-question, caregiver proxy instrument that rates relative intelligibility of a child with a variety of familiar and unfamiliar communication partners. It uses a 5-point Likert scale to rate the approximate level of intelligibility. ICS scores indicate a child's level of functional intelligibility, ranging from a score of 1.00 (low intelligibility) to a score of 5.00 (high intelligibility). If a child achieves an average score of 3.5, then it may be appropriate to indicate that the child is usually to sometimes understood.
Measured: Baseline, Month 12 and Month 24 visits
PEDIATRIC QUALITY OF LIFE (PEDS QL) - GENERIC CORE SCALES
The PedsQL evaluates a child's health-related quality of life (HRQoL) with respect to social, emotional, physical, and school functioning. he PedsQL 4.0 Generic Core Scales consist of four scales measuring HRQoL in four domains: Physical, Emotional, Social, and School functioning. Scores of 81 or higher on the PedsQL™ SCD pain scales should be considered good HRQL functioning. These children likely have had less pain that was less severe than children with lower scores and/or are managing their symptoms well.
Measured: Baseline, Month 12 and Month 24 visits
PEDIATRIC DAYTIME SLEEPINESS SCALE (PDSS)
SS is an 8-item scale that assesses daytime sleepiness in children as a PRO that has been used in sleep disordered breathing and epilepsy studies. 5 points Likert scale (0-4) for 8 questions concerning to sleepiness. Higher scores on PDSS were associated with reduced total sleep time, poorer school achievement, poorer anger control, and frequent illness.
Measured: Baseline, Month 12 and Month 24 visits
BEHAVIOR RATING INVENTORY OF EXECUTIVE FUNCTION -2 (BRIEF2)
The BRIEF2 gives you the information you need to help children and adolescents with executive dysfunction. It digs deeper than similar measures and pinpoints exactly where and why children struggle, so therapists and schools can make informed and impactful intervention and accommodation recommendations. For all BRIEF2 clinical scales and indexes, T scores from 60 to 64 are considered mildly elevated, and T scores from 65 to 69 are considered potentially clinically elevated. T scores at or above 70 are considered clinically elevated.
Measured: Baseline, Month 12 and Month 24 visits
VINELAND ADAPTIVE BEHAVIOR SCALES THIRD EDITION (VINELAND-3)
Vineland Adaptive Behavior Scales 3rd Edition is a leading instrument for diagnosing intellectual and developmental disabilities, providing valuable information for educational and treatment plans. Higher Internalizing and Externalizing v-scale scores indicate more problem behavior. If qualitative descriptors are desired, scores of 1 to 17 may be considered Average, 18 to 20 Elevated, and 21 to 24 Clinically Significant.
Measured: Baseline, Month 12 and Month 24 visits
WECHSLER INTELLIGENCE SCALE FOR CHILDREN (WISC-V)
Wechsler Intelligence Scale for Children (WISC-V) is an intelligence test that measures a child's intellectual ability and 5 cognitive domains that impact performance. Low Average: 80-89. Students who test in this range may struggle to keep up in school, but are not generally eligible for special education or assistance. Average: 90-109. Students who test in this range are average and may or may not struggle to keep up in school.
Measured: Baseline, Month 12 and Month 24 visits
AUTISM SPECTRUM SCREENING QUESTIONNAIRE (ASSQ)
Results consist of a total score between 0 and 54, where higher scores indicate that many characteristics of ASD were reported. A score of 13 and above indicates ASD is probable, with a true positive rate of 90% and a false positive rate of 22%.
Measured: Baseline, Month 12 and Month 24 visits
REPETITIVE BEHAVIOR SCALE - REVISED (RBS-R)
The RBS-R is a questionnaire that focuses exclusively on RRBs. It includes 43 items rated on a four-point Likert scale: 0=behavior does not occur; 1=behavior occurs and is a mild problem; 2=behavior occurs and is a moderate problem; and 3=behavior occurs and is a severe problem.
Measured: Baseline, Month 12 and Month 24 visits
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Dec 2024
- Study start6 Jun 2025
- Primary completionJun 2030 (estimated)
- Study completionJun 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (26)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
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Virginia Commonwealth University
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), SUNY Research Foundation, University of Minnesota, Roseman University of Health Sciences, University of California, San Diego, University of Glasgow, University of Kansas Medical Center
- Responsible party
- Sponsor
- Investigators
- Nicholas Johnson, MD, MSCI, FAAN, Principal investigator, Virginia Commonwealth University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06747884
- Sponsor's protocol ID
- TREAT-01-002
- Other IDs
- R01NS104010-07A1
- Acronym
- TREAT-EXT
- Status last verified
- Aug 2026
- First submitted
- 13 Dec 2024
- Last updated
- 11 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Aggregated and deidentified data will be shared with qualified investigators upon majority approval of the DMCRN investigators.
Publications
Bodfish JW, Symons FJ, Parker DE, Lewis MH. Varieties of repetitive behavior in autism: comparisons to mental retardation. J Autism Dev Disord. 2000 Jun;30(3):237-43. doi: 10.1023/a:1005596502855.
PubMed 11055459Ehlers S, Gillberg C, Wing L. A screening questionnaire for Asperger syndrome and other high-functioning autism spectrum disorders in school age children. J Autism Dev Disord. 1999 Apr;29(2):129-41. doi: 10.1023/a:1023040610384.
PubMed 10382133Huckabee ML, McIntosh T, Fuller L, Curry M, Thomas P, Walshe M, McCague E, Battel I, Nogueira D, Frank U, van den Engel-Hoek L, Sella-Weiss O. The Test of Masticating and Swallowing Solids (TOMASS): reliability, validity and international normative data. Int J Lang Commun Disord. 2018 Jan;53(1):144-156. doi: 10.1111/1460-6984.12332. Epub 2017 Jul 5.
PubMed 28677236Porter K, Smart S, Hennessey N, Cocks N. Chewing skills in two and three year old children: Gender and age comparisons on an adapted version of the test of mastication and swallowing (TOMASS-C). Int J Speech Lang Pathol. 2024 Feb;26(1):38-44. doi: 10.1080/17549507.2022.2152867. Epub 2022 Dec 13.
PubMed 36511843Frank U, van den Engel-Hoek L, Nogueira D, Schindler A, Adams S, Curry M, Huckabee ML. International standardisation of the test of masticating and swallowing solids in children. J Oral Rehabil. 2019 Feb;46(2):161-169. doi: 10.1111/joor.12728. Epub 2018 Oct 27.
PubMed 30307651Patel R, Connaghan K, Franco D, Edsall E, Forgit D, Olsen L, Ramage L, Tyler E, Russell S. "The caterpillar": a novel reading passage for assessment of motor speech disorders. Am J Speech Lang Pathol. 2013 Feb;22(1):1-9. doi: 10.1044/1058-0360(2012/11-0134). Epub 2012 Jul 30.
PubMed 22846881Berggren KN, Hung M, Dixon MM, Bounsanga J, Crockett B, Foye MD, Gu Y, Campbell C, Butterfield RJ, Johnson NE. Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy. Muscle Nerve. 2018 Sep;58(3):413-417. doi: 10.1002/mus.26176.
PubMed 29901230Gavazzi F, Adang L, Waldman A, Jan AK, Liu G, Lorch SA, DeMauro SB, Shults J, Pierce SR, Ballance E, Kornafel T, Harrington A, Glanzman AM, Vanderver A. Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy. Pediatr Neurol. 2021 Dec;125:34-39. doi: 10.1016/j.pediatrneurol.2021.09.012. Epub 2021 Sep 24.
PubMed 34624609McDonald CM, Marden JR, Shieh PB, Wong BL, Lane H, Zhang A, Nguyen H, Frean M, Trifillis P, Koladicz K, Signorovitch J. Disease progression rates in ambulatory Duchenne muscular dystrophy by steroid type, patient age and functional status. J Comp Eff Res. 2023 Apr;12(4):e220190. doi: 10.57264/cer-2022-0190. Epub 2023 Feb 7.
PubMed 36749302Eriksson BM, Ekstrom AB, Peny-Dahlstrand M. Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population-based study. Dev Med Child Neurol. 2020 Jun;62(6):723-728. doi: 10.1111/dmcn.14395. Epub 2019 Nov 8.
PubMed 31701525Johnson NE, Ekstrom AB, Campbell C, Hung M, Adams HR, Chen W, Luebbe E, Hilbert J, Moxley RT 3rd, Heatwole CR. Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy. Dev Med Child Neurol. 2016 Jul;58(7):698-705. doi: 10.1111/dmcn.12948. Epub 2015 Oct 28.
PubMed 26510705Johnson NE, Butterfield R, Berggren K, Hung M, Chen W, DiBella D, Dixon M, Hayes H, Pucillo E, Bounsanga J, Heatwole C, Campbell C. Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study. Neurology. 2016 Jul 12;87(2):160-7. doi: 10.1212/WNL.0000000000002845. Epub 2016 Jun 15.
PubMed 27306634Timchenko L. Correction of RNA-Binding Protein CUGBP1 and GSK3beta Signaling as Therapeutic Approach for Congenital and Adult Myotonic Dystrophy Type 1. Int J Mol Sci. 2019 Dec 21;21(1):94. doi: 10.3390/ijms21010094.
PubMed 31877772Charlet-B N, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell. 2002 Jul;10(1):45-53. doi: 10.1016/s1097-2765(02)00572-5.
PubMed 12150906Wagner SD, Struck AJ, Gupta R, Farnsworth DR, Mahady AE, Eichinger K, Thornton CA, Wang ET, Berglund JA. Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy. PLoS Genet. 2016 Sep 28;12(9):e1006316. doi: 10.1371/journal.pgen.1006316. eCollection 2016 Sep.
PubMed 27681373
Study at a glance
From the registry record, last updated by the sponsor on 11 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
- ClinicalTrials.gov ID
- NCT06747884
- Acronym / sponsor ID
- TREAT-EXT / TREAT-01-002
- Keywords
- DM1, Childhood Myotonic Dystrophy, Congenital Myotonic Dystrophy, Myotonic Dystrophy, Myotonia, Dystrophy Myotonic, DMCRN, TREAT-EXT
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Virginia Commonwealth UniversityUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), SUNY Research Foundation, University of Minnesota, Roseman University of Health Sciences, University of California, San Diego, University of Glasgow, University of Kansas Medical Center
- Study start
- 6 Jun 2025 (actual)
- Primary completion
- Jun 2030 (estimated)
- Study completion
- Jun 2030 (estimated)
- First posted
- 24 Dec 2024 (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.
This is a natural history study to improve the types of assessments and biological samples that will be used in clinical drug trials in both congenital myotonic dystrophy and childhood myotonic dystrophy.
Detailed description
Congenital Myotonic Dystrophy (CDM) is a multi-systemic, dominantly inherited disorder caused by a trinucleotide repeat expansion (CTGn) in the DMPK gene. Children with CDM present at birth with respiratory insufficiency, talipes equiovarus, 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. Childhood onset myotonic dystrophy (ChDM) is similarly multisystem and is classified as onset after birth but before 10 years of age. It likely represents a less severe form of CDM.
Currently, there is an ongoing therapeutic trial in adults with DM1 using an antisense oligonucleotide to target the destruction of the CTG repeat. The ability to conduct this trial in children is directly limited by the lack of available data regarding appropriate clinical endpoints and biomarkers. Although the underlying mechanism is the same in adult DM1 and CDM, there are specific challenges to directly transferring outcome measures into the CDM population. First, our cross-sectional data demonstrates age-related improvement in several functional outcome measures, such as the 6-minute walk. Second, in the adult DM1 clinical trial, RNA splicing changes in the tibialis anterior muscle are a primary endpoint because they correlate with functional measures. However, our pilot data with described splicing changes does not clearly correlate with the adult clinical phenotype.
This study is designed to establish valid and reliable clinical outcome assessments for children with congenital and childhood myotonic dystrophy, and to develop biomarkers for the condition.
This study will enroll up to 200 children with CDM and ChDM at participating sites. No treatment will be administered as part of this study. Patients will receive standard of care as determined by their treating physician. Study visits will occur at Baseline, Month 12, and Month 24.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Congenital myotonic dystrophy (CDM) | – | –Children with congenital myotonic dystrophy. No intervention will be administered to either group. |
| Childhood Myotonic Dystrophy | – | –Children with childhood myotonic dystrophy. No intervention will be administered to either group. |
Who may qualify
- Ages
- 3 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- The study will enroll up to 200 children with CDM and ChDM.
Key inclusion criteria (6 listed)
- Age 5-17 years, 11 months at enrollment. Lower age limit not applicable for participants who have completed ASPIRE-DM1 protocol. Upper age limit not applicable for participants who previously participated in TREAT-01-001 (TREAT-CDM) study
- A diagnosis of CDM, 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).
- Written, voluntary informed consent must be obtained before any study related procedures are conducted.
- Age 3-17 years, 11 months at enrollment. Upper age limit not applicable for participants who previously participated in TREAT-01-001 (TREAT-CDM) study.
- A diagnosis of ChDM, defined as: children having cognitive deficits, muscle weakness, myotonia that developed after age 1 and prior to age 10 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).
Key exclusion criteria (8 listed)
- Any other non-DM1 illness that would interfere with the ability to undergo safe testing or would affect the interpretation of the results, in the opinion of the site investigator
- Significant trauma within the past month
- Internal metal or devices (exclusion for DEXA component)
- Use of anticoagulants, such as warfarin or a direct oral anticoagulant (e.g., dabigatran) due to the increased risk of bleeding with biopsy
- Platelet count <50,000
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
Change in ambulation over 24 months as measured by the 10-Meter Walk/Run Test (10M WRT)
Time frame: Baseline, Month 12 and Month 24 visits
The participant will be timed walking or running along a 10-meter course. It is scored by recording the total time taken to ambulate 6 meters (m) is recorded to the nearest hundredth of a second. 6 m is then divided by the total time (in seconds) taken to ambulate and recorded in m/s.
Change in mobility (100-meter timed test)
Time frame: Baseline, Month 12 and Month 24 visits
Mobility will be measured using the 100 Meter Timed Test (100m) in which the participant is asked to complete 2 laps around 2 cones set 25 meters apart as quickly as safely possible, running if able. The total time in seconds is recorded from when the participant starts walking until they break the plane of the 100 meter mark (i.e., when any part of the body passes the 100 meter mark).
Change in Time to Stand (SUPINE TO STAND test)
Time frame: Baseline, Month 12 and Month 24 visits
Participant will be timed transitioning from a supine position to standing. The participant will complete one trial of this test. The test measures the participant's ability to quickly rise from a supine position on the floor with arms at their sides, to full upright posture with arms at their sides. This should be performed without external support from another person, a device, or furniture. Results will be reported in seconds.
Change in Gross Motor Function (GMFM-88)
Time frame: Baseline, Month 12 and Month 24 visits
The Gross Motor Function Measure (GMFM-88) is an assessment tool originally designed and evaluated to measure changes in gross motor function over time or with intervention in children with cerebral palsy. The GMFM assesses functional abilities including; lying/rolling, sitting, crawling/kneeling, standing, and walking/running/jumping. A four-point ordinal scale of measurement is used to assess each item, higher scores denote better performance. A score of 4 on an item indicates a consistently normal response, a score > 4 indicates persistent hypertonus, and a score < 4 indicates various degrees of hypotonus.
Change in Handheld Dynamometry and Grip HAND-HELD DYNAMOMETRY (HHD)
Time frame: Baseline, Month 12 and Month 24 visits
Maximum hand and grip strength will be assessed using a myometer. The participant will be asked to squeeze a handheld tool. When performing a hand-held dynamometry (HHD) test, you generally want a high score as it indicates greater muscle strength in the tested area; a higher number signifies a stronger muscle contraction.
9-HOLE PEGBOARD TEST (9HPT)
Time frame: Baseline, Month 12 and Month 24 visits
The Nine-Hole Peg Test (9-HPT) is a standardized, quantitative assessment used to measure finger dexterity. Test is measured in seconds.
VIDEO HAND OPENING TIME (vHOT)
Time frame: Baseline, Month 12 and Month 24 visits
. The participant will squeeze the hand for three seconds then open the hand as quickly as possible. A video recording of the procedure will be obtained showing the forearm and hand but not the face. Recordings will later be assessed by a blinded reviewer to determine the hand opening time. The time is recorded in seconds.
IOWA PERFORMANCE INSTRUMENT (IOPI)
Time frame: Baseline, Month 12 and Month 24 visits
The IOPI consists of a pressure bulb attached to a manometer. The pressure bulb will be placed on the participant's tongue. Participants are asked to push the bulb against the hard palate on the alveolar ridge just behind the upper central incisors for 3-5 seconds. This test should be repeated 3 times with a 30-second interval between trials. The maximum pressure is recorded.
CLINICAL EVALUATION OF LANGUAGE FUNDAMENTALS, 5th edition (CELF-5)
Time frame: Baseline, Month 12 and Month 24 visits
The mean score is 100, with a standard deviation of 15, meaning that standard scores between 85-115 are within the normal range. You can calculate the level of severity for delayed skills according to how many deviations below the mean a client's score is: Mild: 70-85, Moderate 55-70 , Severe: 55 and lower.
TIMED WATER SWALLOW TEST (TWST)
Time frame: Baseline, Month 12 and Month 24 visits
Participants will be given 3 ounces (90 mL) of water to drink from a clear cup. Safety of completing this test will be determined by the site PI with input from the parents/caregivers. Participants will be asked to drink the water as they normally would, without interruption. Straws may be used, if that is preferred. Participants will be asked to say aloud "I'm done" when they feel they've completed the task with a written cue provided as a reminder.26,27 Testing will be recorded for later quantification of time needed for test, volume ingested, volume/swallow, time/swallow, and swallow capacity (mL/swallow).
DOMAIN DELTA QUESTIONNAIRE
Time frame: Baseline, Month 12 and Month 24 visits
A "domain delta questionnaire" is a patient-reported questionnaire used in clinical research to assess how much a patient perceives their health status has changed across specific domains (like mobility, overall health, or upper limb function) between two points in time, essentially asking them if they feel they have gotten better, worse, or stayed the same in each area compared to a baseline measurement; it's a way to measure perceived change in health related quality of life over time.
INTELLIGIBILITY IN CONTEXT SCALE (ICS)
Time frame: Baseline, Month 12 and Month 24 visits
The ICS is a brief, 7-question, caregiver proxy instrument that rates relative intelligibility of a child with a variety of familiar and unfamiliar communication partners. It uses a 5-point Likert scale to rate the approximate level of intelligibility. ICS scores indicate a child's level of functional intelligibility, ranging from a score of 1.00 (low intelligibility) to a score of 5.00 (high intelligibility). If a child achieves an average score of 3.5, then it may be appropriate to indicate that the child is usually to sometimes understood.
PEDIATRIC QUALITY OF LIFE (PEDS QL) - GENERIC CORE SCALES
Time frame: Baseline, Month 12 and Month 24 visits
The PedsQL evaluates a child's health-related quality of life (HRQoL) with respect to social, emotional, physical, and school functioning. he PedsQL 4.0 Generic Core Scales consist of four scales measuring HRQoL in four domains: Physical, Emotional, Social, and School functioning. Scores of 81 or higher on the PedsQL™ SCD pain scales should be considered good HRQL functioning. These children likely have had less pain that was less severe than children with lower scores and/or are managing their symptoms well.
PEDIATRIC DAYTIME SLEEPINESS SCALE (PDSS)
Time frame: Baseline, Month 12 and Month 24 visits
SS is an 8-item scale that assesses daytime sleepiness in children as a PRO that has been used in sleep disordered breathing and epilepsy studies. 5 points Likert scale (0-4) for 8 questions concerning to sleepiness. Higher scores on PDSS were associated with reduced total sleep time, poorer school achievement, poorer anger control, and frequent illness.
BEHAVIOR RATING INVENTORY OF EXECUTIVE FUNCTION -2 (BRIEF2)
Time frame: Baseline, Month 12 and Month 24 visits
The BRIEF2 gives you the information you need to help children and adolescents with executive dysfunction. It digs deeper than similar measures and pinpoints exactly where and why children struggle, so therapists and schools can make informed and impactful intervention and accommodation recommendations. For all BRIEF2 clinical scales and indexes, T scores from 60 to 64 are considered mildly elevated, and T scores from 65 to 69 are considered potentially clinically elevated. T scores at or above 70 are considered clinically elevated.
VINELAND ADAPTIVE BEHAVIOR SCALES THIRD EDITION (VINELAND-3)
Time frame: Baseline, Month 12 and Month 24 visits
Vineland Adaptive Behavior Scales 3rd Edition is a leading instrument for diagnosing intellectual and developmental disabilities, providing valuable information for educational and treatment plans. Higher Internalizing and Externalizing v-scale scores indicate more problem behavior. If qualitative descriptors are desired, scores of 1 to 17 may be considered Average, 18 to 20 Elevated, and 21 to 24 Clinically Significant.
WECHSLER INTELLIGENCE SCALE FOR CHILDREN (WISC-V)
Time frame: Baseline, Month 12 and Month 24 visits
Wechsler Intelligence Scale for Children (WISC-V) is an intelligence test that measures a child's intellectual ability and 5 cognitive domains that impact performance. Low Average: 80-89. Students who test in this range may struggle to keep up in school, but are not generally eligible for special education or assistance. Average: 90-109. Students who test in this range are average and may or may not struggle to keep up in school.
AUTISM SPECTRUM SCREENING QUESTIONNAIRE (ASSQ)
Time frame: Baseline, Month 12 and Month 24 visits
Results consist of a total score between 0 and 54, where higher scores indicate that many characteristics of ASD were reported. A score of 13 and above indicates ASD is probable, with a true positive rate of 90% and a false positive rate of 22%.
REPETITIVE BEHAVIOR SCALE - REVISED (RBS-R)
Time frame: Baseline, Month 12 and Month 24 visits
The RBS-R is a questionnaire that focuses exclusively on RRBs. It includes 43 items rated on a four-point Likert scale: 0=behavior does not occur; 1=behavior occurs and is a mild problem; 2=behavior occurs and is a moderate problem; and 3=behavior occurs and is a severe problem.
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 11 Aug 2026.
- Background: PubMed 11055459Bodfish JW, Symons FJ, Parker DE, Lewis MH. Varieties of repetitive behavior in autism: comparisons to mental retardation. J Autism Dev Disord. 2000 Jun;30(3):237-43. doi: 10.1023/a:1005596502855.
- Background: PubMed 10382133Ehlers S, Gillberg C, Wing L. A screening questionnaire for Asperger syndrome and other high-functioning autism spectrum disorders in school age children. J Autism Dev Disord. 1999 Apr;29(2):129-41. doi: 10.1023/a:1023040610384.
- Background: PubMed 28677236Huckabee ML, McIntosh T, Fuller L, Curry M, Thomas P, Walshe M, McCague E, Battel I, Nogueira D, Frank U, van den Engel-Hoek L, Sella-Weiss O. The Test of Masticating and Swallowing Solids (TOMASS): reliability, validity and international normative data. Int J Lang Commun Disord. 2018 Jan;53(1):144-156. doi: 10.1111/1460-6984.12332. Epub 2017 Jul 5.
- Background: PubMed 36511843Porter K, Smart S, Hennessey N, Cocks N. Chewing skills in two and three year old children: Gender and age comparisons on an adapted version of the test of mastication and swallowing (TOMASS-C). Int J Speech Lang Pathol. 2024 Feb;26(1):38-44. doi: 10.1080/17549507.2022.2152867. Epub 2022 Dec 13.
- Background: PubMed 30307651Frank U, van den Engel-Hoek L, Nogueira D, Schindler A, Adams S, Curry M, Huckabee ML. International standardisation of the test of masticating and swallowing solids in children. J Oral Rehabil. 2019 Feb;46(2):161-169. doi: 10.1111/joor.12728. Epub 2018 Oct 27.
- Background: PubMed 22846881Patel R, Connaghan K, Franco D, Edsall E, Forgit D, Olsen L, Ramage L, Tyler E, Russell S. "The caterpillar": a novel reading passage for assessment of motor speech disorders. Am J Speech Lang Pathol. 2013 Feb;22(1):1-9. doi: 10.1044/1058-0360(2012/11-0134). Epub 2012 Jul 30.
- Background: PubMed 29901230Berggren KN, Hung M, Dixon MM, Bounsanga J, Crockett B, Foye MD, Gu Y, Campbell C, Butterfield RJ, Johnson NE. Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy. Muscle Nerve. 2018 Sep;58(3):413-417. doi: 10.1002/mus.26176.
- Background: PubMed 34624609Gavazzi F, Adang L, Waldman A, Jan AK, Liu G, Lorch SA, DeMauro SB, Shults J, Pierce SR, Ballance E, Kornafel T, Harrington A, Glanzman AM, Vanderver A. Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy. Pediatr Neurol. 2021 Dec;125:34-39. doi: 10.1016/j.pediatrneurol.2021.09.012. Epub 2021 Sep 24.
- Background: PubMed 36749302McDonald CM, Marden JR, Shieh PB, Wong BL, Lane H, Zhang A, Nguyen H, Frean M, Trifillis P, Koladicz K, Signorovitch J. Disease progression rates in ambulatory Duchenne muscular dystrophy by steroid type, patient age and functional status. J Comp Eff Res. 2023 Apr;12(4):e220190. doi: 10.57264/cer-2022-0190. Epub 2023 Feb 7.
- Background: PubMed 31701525Eriksson BM, Ekstrom AB, Peny-Dahlstrand M. Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population-based study. Dev Med Child Neurol. 2020 Jun;62(6):723-728. doi: 10.1111/dmcn.14395. Epub 2019 Nov 8.
- Background: PubMed 26510705Johnson NE, Ekstrom AB, Campbell C, Hung M, Adams HR, Chen W, Luebbe E, Hilbert J, Moxley RT 3rd, Heatwole CR. Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy. Dev Med Child Neurol. 2016 Jul;58(7):698-705. doi: 10.1111/dmcn.12948. Epub 2015 Oct 28.
- Background: PubMed 27306634Johnson NE, Butterfield R, Berggren K, Hung M, Chen W, DiBella D, Dixon M, Hayes H, Pucillo E, Bounsanga J, Heatwole C, Campbell C. Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study. Neurology. 2016 Jul 12;87(2):160-7. doi: 10.1212/WNL.0000000000002845. Epub 2016 Jun 15.
- Individual participant dataSharing planned: No. Aggregated and deidentified data will be shared with qualified investigators upon majority approval of the DMCRN investigators.
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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 Johnson, MD, MSCI, FAAN principal investigator
Virginia Commonwealth University
4 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 Childhood Myotonic Dystrophy, run by Virginia Commonwealth University at 4 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 6 inclusion and 8 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 11 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, Brazil. 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, MPH (804-828-6318, Ruby.Langeslay@vcuhealth.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in ambulation over 24 months as measured by the 10-Meter Walk/Run Test (10M WRT) (time frame: Baseline, Month 12 and Month 24 visits). The study lists 19 primary outcomes in all. 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 NCT06747884, which also lists 26 linked publications.
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 Aug 2026.