NCT03113877

Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS)

Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS), a Pilot Study.

• Status: Terminated
• Phase: —
• Study type: Observational
• Enrollment: 1 (actual)
• Sponsor: Mayo Clinic · Academic / Other
• Sex: All
• Age: 8 Years – 18 Years
• Healthy volunteers: Not accepted

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

Type	Name	Description
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).

Timeline

• Start date: 2016-08-01
• Primary completion: 2017-09-01
• Completion: 2017-09-01
• First posted: 2017-04-14
• Last updated: 2018-12-06

Locations

1 site across 1 country: United States