Evaluation of cardiovascular and respiratory autonomic control during sleep and arousal in patients with familial dysautonomia

• Conditions: Familial DysautonomiaHealthy Volunteers; G90.1; Familial dysautonomia [Riley-Day]

• Registration Number: DRKS00008852
• Lead Sponsor: eurologische Universitätsklinik Erlangen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Completion: 2005-07-15
• Study Start: 2015-07-01
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 34

Inclusion Criteria

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.

Exclusion Criteria

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

Study & Design

• Study Type: observational
• Study Design: Not specified