Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy

University of Rochester100 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

100

Conditions

Myotonic Dystrophy Type 1 Congenital DM1 Juvenile DM1 Childhood DM1

Eligibility

Medical Language ↔ Plain English

Inclusion Criteria: * 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 * If appropriate based on age and developmental level, child willing to provide assent for their own participation * Available wifi Exclusion Criteria: * 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

Outcomes

Primary Outcomes

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 months

Remote assessment of grip strength

Grip strength will be assessed using a hand held dynamometer (strength measured in kg)

Time frame: 12 months

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 months

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 months

Genetic Test

Participants will have their blood drawn in a lab in their community and ship it to us using a pre-paid shipping label. If not able, a home blood draw kit will be provided. DNA will be extracted from the blood and the CTG repeat length will be determined. If a participant chooses to, they will receive a letter with their research genetic test result.

Time frame: At baseline

Remote assessment of activity

Participants will wear an activity monitor for 7 days. One device is worn on the wrist like a watch and the other on the waistband of participant's pants.

Time frame: 12 months

Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Central Contacts