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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

1 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-08-31

Study Completion Date

2017-09-01

Brief Summary

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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.

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Detailed Description

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Conditions

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Cornelia de Lange Syndrome

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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Clinical Testing for Autonomic Dysfunction

COMPASS-31 Survey completion. Autonomic Reflex Screen. Thermoregulatory Swear Test.

Autonomic Dysfunction Testing

Intervention Type OTHER

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).

Interventions

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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).

Intervention Type OTHER

Eligibility Criteria

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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

Minimum Eligible Age

8 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No