Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age0-17
SponsorUniversity of Rochester
About this trial
Myotonic dystrophy type 1 (DM1) can affect people in many different ways, even in the same family. The symptoms that children experience can be different and more severe than adults. Prior studies in children have been limited because only a small number of children could participate. In this study, we hope to learn more about these differences and what causes them.
This is an observational study conducted in participants' homes and does not require travel. Instead, we will use video calls to talk with children and their parents/guardians about DM1 symptoms and how it affects the child's muscles, heart, and brain. We'll send families an iPad and the other tools they need for the study. During the video call, kids will do some simple activities to see how their body moves and functions. Parents/guardians might need to help their child with some of these activities.
After the video visit, we'll get a small blood sample from the child. This can be done at a local lab or even at home. We'll then look at the child's genes in the blood sample to understand how they might be linked to their symptoms. Parents/guardians can chose to have their child's genetic test result returned to them.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Age 0-17 years
Clinical diagnosis of congenital, childhood, or juvenile DM1
English speaking
Parent or guardian willing to assist and provide consent for participation
Disqualifiers
Presence of any other non-DM1 illness or disease (e.g. other neuromuscular disorder, cerebral palsy, or other genetic or acquired disorder affecting the central or peripheral nervous system) that could interfere with study results in the opinion of the site investigator
Significant recent trauma or injury prior to the RSV that could affect functional assessment
Trial population
Myotonic dystrophy DM1 between the ages of 0-17 years old
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Remote assessment of cognitive function
Participants will complete tests of memory, paying attention, and mental functioning. This will involve answering questions or performing tasks on the iPad lasting less than 10 minutes. Parents or guardians will also complete surveys and an interview about their child's development, learning, and behaviors.
Time frame
12 months2
Remote assessment of grip strength
Grip strength will be assessed using a hand held dynamometer (strength measured in kg)
Time frame
12 months3
Remote assessment of Video Hand Opening Time (VHOT)
The participant will be asked to open their hand as quickly as possible after maintaining a fully fisted position for 3 seconds. This assessment will be video recorded for scoring.
Time frame
12 months4
10 Meter Walk/Run Test
From standing, the participant is asked to ambulate 10 meters as quickly as possible. Ankle braces and orthotics may be used. This assessment will be video recorded for scoring.
Time frame
12 monthsSponsors and contacts
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Source ClinicalTrials.gov