DMCRN-02-001: Assessing Pediatric Endpoints in DM1
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Congenital Myotonic Dystrophy, CDM. Basic parameters: up to 59 months · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
Overview
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 .
Primary outcome measures
- 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]
Secondary outcome measures (5)
- 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]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 4 centers
- University of California, Los Angeles — Los Angeles
- University of Kansas Medical Center — Fairway
- University of Rochester Medical Center — Rochester
- Virginia Commonwealth University — Richmond
Italy · 1 center
- Centro Clinico NeMO — Milan
Identifiers
NCT: NCT05224778 · HM20023386