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.

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 Overview

• Status: Terminated
• Conditions: Cornelia de Lange Syndrome
• Intervention / Treatment: Other: Autonomic Dysfunction Testing

• Study Type: Observational
• Enrollment (Actual): 1

Contacts and Locations

Study Locations

• United States
  • Minnesota
    • Rochester, Minnesota, United States, 55905
      • Mayo Clinic

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years to 16 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with CDLS reached through national distribution list through the CdLS Foundation with an invitation to volunteer.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Clinical Testing for Autonomic Dysfunction; COMPASS-31 Survey completion. Autonomic Reflex Screen. Thermoregulatory Swear Test.	Other: 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).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of patients who tolerated 70 degree head up tilt table test	Patients tolerating at least 5 minutes of tilt table	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.	1 year
Number of patients who tolerated thermoregulatory sweat test	Patients tolerating at least 15 minutes of thermoregulatory sweat test	1 year

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Investigators: Principal Investigator: Amie E Jones, MD, Mayo Clinic

Study record dates

Study Major Dates

• Study Start: August 1, 2016
• Primary Completion (Actual): September 1, 2017
• Study Completion (Actual): September 1, 2017

Study Registration Dates

• First Submitted: November 16, 2016
• First Submitted That Met QC Criteria: April 10, 2017
• First Posted (Actual): April 14, 2017

Study Record Updates

• Last Update Posted (Actual): December 6, 2018
• Last Update Submitted That Met QC Criteria: December 4, 2018
• Last Verified: December 1, 2018

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Syndrome; De Lange Syndrome
• Other Study ID Numbers: 15-003782

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No