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

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ClinicalTrials.gov Identifier: NCT03113877
Recruitment Status : Terminated (Difficulty in recruitment, Funding has run out.)
First Posted : April 14, 2017
Last Update Posted : December 6, 2018
Sponsor:
Information provided by (Responsible Party):
Amie E. Jones, M.D., Mayo Clinic

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.

Condition or disease Intervention/treatment
Cornelia de Lange Syndrome Other: Autonomic Dysfunction Testing

Study Type : Observational
Actual Enrollment : 1 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS), a Pilot Study.
Study Start Date : August 2016
Actual Primary Completion Date : September 1, 2017
Actual Study Completion Date : September 1, 2017


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).




Primary Outcome Measures :
  1. Number of patients who tolerated 70 degree head up tilt table test [ Time Frame: 1 year ]
    Patients tolerating at least 5 minutes of tilt table

  2. Number of patients who show evidence of dysautonomia [ Time Frame: 1 year ]
    Dysautonomia measured by excessive heart rate (>40 bpm) on a tilt table test or reduced sweating on a thermoregulatory sweat test.

  3. Number of patients who tolerated thermoregulatory sweat test [ Time Frame: 1 year ]
    Patients tolerating at least 15 minutes of thermoregulatory sweat test



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Ages Eligible for Study:   8 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with CDLS reached through national distribution list through the CdLS Foundation with an invitation to volunteer.
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03113877


Locations
United States, Minnesota
Mayo Clinic
Rochester, Minnesota, United States, 55905
Sponsors and Collaborators
Mayo Clinic
Investigators
Principal Investigator: Amie E Jones, MD Mayo Clinic

Responsible Party: Amie E. Jones, M.D., PI, Mayo Clinic
ClinicalTrials.gov Identifier: NCT03113877     History of Changes
Other Study ID Numbers: 15-003782
First Posted: April 14, 2017    Key Record Dates
Last Update Posted: December 6, 2018
Last Verified: December 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
Syndrome
De Lange Syndrome
Disease
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn