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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03113877

Enrollment

Registered

2017-04-14

Start date

2016-08-31

Completion date

2017-09-01

Last updated

2018-12-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cornelia de Lange Syndrome

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.

Interventions

OTHERAutonomic 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).

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

8 Years to 18 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
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 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.
Number of patients who tolerated thermoregulatory sweat test	1 year	Patients tolerating at least 15 minutes of thermoregulatory sweat test

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026