Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS)
Overview
Tab Title Description
Study type
ObservationalDescribes the nature of a clinical study. Types include:
- Observational study — observes people and measures outcomes without affecting results.
- Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
- Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
Study IDs
Site IRB
- Rochester, Minnesota: 15-003782
NCT ID: NCT03113877
Sponsor Protocol Number: 15-003782
About this 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.
Participation eligibility
Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.
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
Participating Mayo Clinic locations
Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.
| Mayo Clinic Location |
Status |
|
Rochester, Minn.
Mayo Clinic principal investigator Amie Jones, M.D. |
Closed for enrollment |
|
More information
Publications
Publications are currently not available