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

NCT03113877 | Terminated

• 1 other identifier: 15-003782
• Study Type: observational
• Target: 1
• Locations: 1 country
• Sites: 1

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.

Conditions

Cornelia de Lange Syndrome

Outcome Measures

Primary Outcomes (3)

• 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

Study Arms (1)

Clinical Testing for Autonomic Dysfunction

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

Other: Autonomic Dysfunction Testing

Interventions

Autonomic Dysfunction Testing 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).

Clinical Testing for Autonomic Dysfunction

Eligibility Criteria

• Age: 8 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

MeSH Terms

Conditions

De Lange Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Study Officials

• Amie E Jones, MD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PI

Study Record Dates

• First Submitted: November 16, 2016
• First Posted: April 14, 2017
• Study Start: August 1, 2016
• Primary Completion: September 1, 2017
• Study Completion: September 1, 2017
• Last Updated: December 6, 2018

Record last verified: 2018-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)