TREAT_CDM: Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy

• Sponsor: Virginia Commonwealth University (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT03059264
• Collaborator: Neuromuscular Omnicomprehensive Clinical Center, Milan Italy (Other), University of Western Ontario, Canada, Children's Health Research Institute (Other)
• Enrollment: 150
• Locations: 3
• Anticipated Duration (Months): 78.5
• Patients Per Site: 50
• Patients Per Site Per Month: 0.6

Study Details

Study Description

Brief 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. 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.

Condition or Disease	Intervention/Treatment	Phase
Congenital Myotonic Dystrophy	Other: Natural history

Study Design

• Study Type: Observational [Patient Registry]
• Anticipated Enrollment: 150 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy
• Actual Study Start Date: Dec 14, 2016
• Anticipated Primary Completion Date: Jun 30, 2023
• Anticipated Study Completion Date: Jun 30, 2023

Arms and Interventions

Arm	Intervention/Treatment
CDM Children with Congenital Myotonic Dystrophy	Other: Natural history; Longitudinal disease progression
Control Healthy Children	Other: Natural history; Longitudinal disease progression

Outcome Measures

Primary Outcome Measures

1. Grip Strength [1 year]

   Measure of force generated by hand grip

Secondary Outcome Measures

1. Congenital and Childhood Onset Myotonic Dystrophy Health Index (CCMDHI) [1 year]

   Disease specific patient and parent reported outcome measure of quality of life

2. 6-minute walk [1 year]

   Assess distance walked over 6 minutes as a sub-maximal test of aerobic capacity/endurance

3. Behavior Rating Inventory of Executive Function (BRIEF) [1 year]

   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

4. Lip Force [1 year]

   Measure of force generation by orbicularis oris

Eligibility Criteria

Criteria

• Ages Eligible for Study: 0 Years to 15 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes

CDM Group

Inclusion Criteria:

• Age 0-15 yrs

• Diagnosis of CDM, based on symptoms and genetic testing of expanded trinucleotide repeats.

Exclusion Criteria:

• 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

Inclusion Criteria:

• Age 0-15 yrs

• Healthy children on no medication

Exclusion Criteria:

• 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Virginia Commonwealth University	Richmond	Virginia	United States	23298
2	Pediatric Neuromuscular Research, Children's Hospital - LHSC	London	Ontario	Canada
3	Centro Clinico Nemo	Milano		Italy	20162

Sponsors and Collaborators

• Virginia Commonwealth University
• Neuromuscular Omnicomprehensive Clinical Center, Milan Italy
• University of Western Ontario, Canada, Children's Health Research Institute

Investigators

• Principal Investigator: Nicholas Johnson, MD, Virginia Commonwealth University

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Virginia Commonwealth University
• ClinicalTrials.gov Identifier: NCT03059264
• Other Study ID Numbers: HM20014211
• First Posted: Feb 23, 2017
• Last Update Posted: Dec 15, 2021
• Last Verified: Dec 1, 2021

• Individual Participant Data (IPD) Sharing Statement: No
• Plan to Share IPD: No
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Myotonic Dystrophy

Study Results

No Results Posted as of Dec 15, 2021