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

Mayo Clinic1 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Cornelia de Lange Syndrome

Interventions

Autonomic Dysfunction TestingOTHER

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).

Eligibility

Sex: ALLMin age: 8 YearsMax age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

Mayo Clinic

Rochester, Minnesota, United States

Outcomes

Primary Outcomes

Number of patients who tolerated 70 degree head up tilt table test

Patients tolerating at least 5 minutes of tilt table

Time frame: 1 year

Number of patients who show evidence of dysautonomia

Dysautonomia measured by excessive heart rate (\>40 bpm) on a tilt table test or reduced sweating on a thermoregulatory sweat test.

Time frame: 1 year

Number of patients who tolerated thermoregulatory sweat test

Patients tolerating at least 15 minutes of thermoregulatory sweat test

Time frame: 1 year

Data from ClinicalTrials.gov

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