Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS)
NCT03113877 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 1
Last updated 2018-12-06
Summary
Based on survey data, individuals with Cornelia de Lange Syndrome (CdLS) often experience symptoms of autonomic dysfunction however there are no reported studies in which these patients have had objective testing of the autonomic nervous system. This is a pilot study in which patients with CdLS will undergo the standard clinical testing for autonomic dysfunction with a autonomic reflex screen and thermoregulatory sweat test.
Conditions
- Cornelia de Lange Syndrome
Interventions
- OTHER
-
Autonomic Dysfunction Testing
The participants with CdLS will complete the COMPASS-31 survey and will complete standard clinical testing for autonomic dysfunction including an autonomic reflex screen (tilt table and quantitative sudomotor axon reflex testing) and thermoregulatory sweat test (TST).
Sponsors & Collaborators
- lead OTHER
Principal Investigators
-
Amie E Jones, MD · Mayo Clinic
Eligibility
- Min Age
- 8 Years
- Max Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2016-08-31
- Primary Completion
- 2017-09-01
- Completion
- 2017-09-01
Countries
- United States
Study Locations
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