Overview
Evaluating the Psychometric Properties of Three Clinical Trial Outcome Measures for Rett Syndrome: The purpose of this research study is to document the psychometric properties of three non-invasive, clinic-friendly, and quantifiable outcome measures reflecting pathologically- and clinically-relevant symptoms of Rett Syndrome (RTT). Despite several ongoing or pending clinical trials for pharmaceutical interventions in RTT, there are currently no agreed-upon outcome measures sufficiently validated for use in the RTT patient population. We have identified three potential non-invasive measures that reflect clinical features of RTT and that have preliminary evidence of feasibility. The next step is to document the reliability and validity of these measures in clinical populations. We also plan to pilot an ambulatory measure of skin temperature that has been used in other clinical populations, as a means to evaluate peripheral temperature fluctuations and diurnal patterns.
The study consists of two components: a virtual research visit with our research team via Zoom and two, in-home collection periods using wearable technology. The virtual research visit will last around 1 hour, and we will ask parents/guardians of participants questions about their child's health, behavior, and mood. After the virtual visit, we will also send additional questionnaires via email for families to complete on their own time.
The two, in-home collection periods will last for 14 days, 4-6 weeks apart. Research staff will send a sleep watch, and 3 temperature sensors to the family's home. During these collection periods, we will ask families to have their child wear a sleep watch (looks like a Fitbit) for 14 days. This sleep watch will record the participant's activity when they are asleep and awake. We will ask families to fill out a sleep diary for their child during this time too. Families will repeat this process 4-6 weeks later.
In addition to the sleep watch, we will ask participants to wear 3, small temperature sensors on their feet and abdomen. These temperature sensors will be taped the participant's feet and abdomen using hypoallergenic tape. We will also families to leave the temperature sensors on their child's body for 7 days. Families will repeat this process 4-6 weeks later as well.
Description
- Clinically or genetically-diagnosed Rett syndrome, MECP2 duplication syndrome, CDKL5 syndrome, FOXG1 syndrome, or a pathogenic mutation of MECP2, CDKL5, or FOXG1 with intellectual/developmental delay without a diagnosis of Rett syndrome.
- Non-verbal or minimally verbal.
- All ages.
Eligibility
- Clinically or genetically-diagnosed Rett syndrome, MECP2 duplication syndrome, CDKL5 syndrome, FOXG1 syndrome, or a pathogenic mutation of MECP2, CDKL5, or FOXG1 with intellectual/developmental delay without a diagnosis of Rett syndrome.
- Non-verbal or minimally verbal.
- All ages.