Evaluation of cardiovascular and respiratory autonomic control during sleep and arousal in patients with familial dysautonomia - Familial Dysautonomia sleep study

eurologische Universitätsklinik Erlangen0 sites34 target enrollmentJuly 1, 2015

Overview

No summary available.

Registry

who.int

Start Date

July 1, 2015

End Date

July 15, 2005

Last Updated

last year

Study Type

Observational

Sex

All

Sponsor

eurologische Universitätsklinik Erlangen

•All FD patients have to have the characteristic genetic haplotype, i.e. they have to be homozygous for the intron 20 mutation on the IKBKAP gene and need to fulfill the diagnostic criteria of FD including Ashkenazi Jewish ancestry, absence of deep tendon reflexes, overflow tears, lingual fungiform papillae, and of axon flare response following intradermal histamine injection. Only mildly affected FD patients without significant, clinically overt respiratory difficulties will participate in the study.

•a.If the patient's body weight is less than 25 lbs.
•b.Age \< 10 years
•c.If the patient is acutely ill or manifesting signs of dysautonomic crisis
•d.If the core (oral) temperature is \> 38°C
•e.If the patient has acute respiratory compromise, i.e. pneumonia
•f.If the patient has severe chronic lung disease as judged by an oxygen saturation \<95% supine
•g.Bradycardia, second\-degree AV block, complete AV block, sick sinus syndrome, chronic heart failure assessed as NYHA class IV
•h. If the patient is on nocturnal oxygen supply
•i. If the patient requires overnight gastrostomy feeding