An observational study in Cornelia de Lange Syndrome, sponsored by Mayo Clinic. Terminated at 1 site in United States. Open to participants aged 8 Years to 18 Years. Per ClinicalTrials.gov, last updated 2018-12-06.
Sponsored by Mayo Clinic · Observational
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.
9,217 studies on the registry are indexed under Syndrome; 1,031 are open to participants now.
This study's enrollment of 1 is below the median of 102 across 2,209 observational studies indexed under Syndrome.
Browse Syndrome studies →Mayo Clinic is the lead sponsor of 3,218 studies on the registry; 670 are open to participants now.
Of its 445 completed or terminated interventional studies of FDA-regulated products, 313 (70%) have results posted.
Counted across the registry records on this site, refreshed daily.
Patients with CDLS reached through national distribution list through the CdLS Foundation with an invitation to volunteer.
Exclusion Criteria:
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).
Number of patients who tolerated 70 degree head up tilt table test
Patients tolerating at least 5 minutes of tilt table
Time frame: 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.
Time frame: 1 year
Number of patients who tolerated thermoregulatory sweat test
Patients tolerating at least 15 minutes of thermoregulatory sweat test
Time frame: 1 year
Plan to share: No
No publications or documents are linked to this record.
This study is terminated, as verified in Dec 2018. You cannot join it, but the record below documents what was studied.
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De Lange Syndrome
Mayo Clinic