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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

Brief 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.

Detailed Summary:
Sponsor: Mayo Clinic

Current Primary Outcome:

• Number of patients who tolerated 70 degree head up tilt table test [ Time Frame: 1 year ]
  Patients tolerating at least 5 minutes of tilt table
• Number of patients who show evidence of dysautonomia [ Time Frame: 1 year ]
  Dysautonomia measured by excessive heart rate (>40 bpm) on a tilt table test or reduced sweating on a thermoregulatory sweat test.
• Number of patients who tolerated thermoregulatory sweat test [ Time Frame: 1 year ]
  Patients tolerating at least 15 minutes of thermoregulatory sweat test

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Mayo Clinic

Dates:
Date Received: November 16, 2016
Date Started: August 2016
Date Completion: August 2017
Last Updated: April 10, 2017
Last Verified: April 2017