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


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


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Study Results Summary

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Supplemental Study Information

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