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โ† Trials
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DMCRN-02-001: Assessing Pediatric Endpoints in DM1

Recruitingn/aAges any - 59 MonthsAllVirginia Commonwealth University
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In plain words

What the trial is, and whether it could suit you

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.

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

5 sites
University of California, Los Angeles
Los Angeles, United States
University of Kansas Medical Center
Fairway, United States
University of Rochester Medical Center
Rochester, United States
Virginia Commonwealth University
Richmond, United States
Centro Clinico NeMO
Milan, Italy
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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