Clinical trial NCT05224778: DMCRN-02-001: Assessing Pediatric Endpoints in DM1
Official title: Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Congenital Myotonic Dystrophy
CDM
Keywords: Clinical Research
Myotonic dystrophy
Congenital Myotonic Dystrophy
CDM
Lead sponsor: Virginia Commonwealth University
Sponsor class: OTHER
First posted: 2022-02-04
Enrollment: 50
Sex: ALL
Maximum age (years): 59
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: 30 children with CDM

Brief 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.

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 .

Eligibility criteria: Inclusion Criteria:

* 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

Exclusion Criteria:

* 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

Primary outcomes:
measure: To evaluate motor milestone attainment in individuals with CDM and ChDM and compare to typically developing children
timeFrame: Through study completion at 18 months
Secondary outcomes:
measure: Dysarthria Assessment
timeFrame: Through study completion at 18 months
measure: Vineland
timeFrame: Through study completion at 18 months
measure: CCMDHI
timeFrame: Through study completion at 18 months
measure: Domain Delta
timeFrame: Through study completion at 18 months
measure: Gross Motor Function Measure (GMFM-88)
timeFrame: Through study completion 18 months
Other outcomes:
measure: Correlate the functional outcome measures with potential biomarkers in CDM.
timeFrame: Baseline
measure: Blood Sampling
timeFrame: Baseline, month 12, month 18
measure: Muscle mass, DEXA
timeFrame: Baseline, month 12, month 18
measure: World Health Organization (WHO) Motor Milestones
timeFrame: Through study completion at 18 months
Locations:
city: Los Angeles
country: United States
facility: University of California, Los Angeles
state: California
city: Fairway
country: United States
facility: University of Kansas Medical Center
state: Kansas
city: Rochester
country: United States
facility: University of Rochester Medical Center
state: New York
city: Richmond
country: United States
facility: Virginia Commonwealth University
state: Virginia
city: Milan
country: Italy
facility: Centro Clinico NeMO
Study officials:
affiliation: Virginia Commonwealth University
name: Nicholas E. Johnson, MD
role: PRINCIPAL_INVESTIGATOR
References: