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

Terminated

• Conditions: Cornelia de Lange Syndrome

• Registration Number: NCT03113877
• Lead Sponsor: Mayo Clinic

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 Description

Not available

Study Timeline

• Study Start: 2016-08
• Study First Submitted: 2016-11-16
• Study First Submitted QC: 2017-04-10
• Study First Posted: 2017-04-14
• Primary Completion: 2017-09-01
• Study Completion: 2017-09-01
• Status Verified: 2018-12
• Last Update Submitted: 2018-12-04
• Last Update Posted: 2018-12-06

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 1

Inclusion Criteria

• Pediatric patients (aged 8-17 years of age) with Cornelia de Lange syndrome.
• Consent obtained from responsible guardian.

Exclusion Criteria

• Patients less than age 8 or 18 and older
• Female patients known to be pregnant
• Individuals not thought to be able to tolerate the testing.
• Concomitant therapy with anticholinergic, alpha-adrenergic antagonists, beta-adrenergic antagonists or other medications which could interfere with autonomic testing. Patients may participate if the potentially interfering medication is held for five half-lives prior to the study

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

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

Trial Locations

Locations (1)

Mayo Clinic; 🇺🇸 Rochester, Minnesota, United States