Familial Dysautonomia Healthy Volunteers G90.1
Conditions
Interventions
Group 1: patients with Familial Dysautonomia -
polysomnographic recordings of EEG, EOG, EMG, ECG, blood pressure, breathing frequency, Oxygen-saturation, periodic leg movements, end-expiratory carbon
Sponsors
Neurologische Universitätsklinik Erlangen
Eligibility
Sex/Gender
All
Age
10 Years to No maximum
Inclusion criteria
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
Exclusion criteria: a.If the patient's body weight is less than 25 lbs. b.Age 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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| For this study, no end-points were defined. Aim of the study is to identify autonomic and respiratory disturbances during specific sleep or arousal stages in patients with Familial Dysautonomia. Using a portable polysomnograph, we will continuously monitor the following signals for 12-16 hours: - the electrocardiogram (ECG) using conventional superficial disc electrodes attached to the area under the right and left clavicles and the right and left lower thorax, - electrooculogram (EOG), - electroencephalogram (EEG) at the standard scalp positions of the international 10-20 system using superficial disc electrodes, - electromyography (EMG) using surface electrodes placed laterally to the chin, body position using a polysomnograph unit integrated sensor, - periodic leg movements (PLM) using 3-point EMG electrodes placed over left and right anterior tibial muscle, - oxygen (O2) saturation by means of finger pulsoxymetry, - end-expiratory carbon dioxide (CO2) and air flow using nasal cannulas, and - respiration by means of plethysmographic belts attached to the lower thorax and around the mid-abdomen, at the points of maximal respiratory excursion. - In addition, we will measure blood pressure continuously by means of non-invasive infrared finger plethysmography. After 12-16 hours, the equipment will be removed and data downloaded to a personal computer. The data will be cleaned from artefacts and further analyzed. Particular sleep stages and arousals will be differentiated by means of EEG, EOG, EMG and respiration. The other parameters will be used to evaluate the autonomic nervous system. Moreover, we will ask the participants to fill out the sleep questionnaire "Pittsburgh Sleep Quality Index". The "Pittsburgh Sleep Quality Index" evaluates the sleep quality during the previous month. | — |
Secondary
| Measure | Time frame |
|---|---|
| For this study, no secondary end-points were defined. | — |
Countries
United States
Contacts
Public ContactFelicia Axelrod
Dysautonomia Center
Outcome results
None listed