Familial Dysautonomia
Conditions
Keywords
Familial Dysautonomia, Hereditary Sensory and Autonomic Neuropathy type 3, HSAN, autonomic sympathetic crises
Brief summary
The purpose of this placebo controlled interventional study is to collect preliminary data on administering dexmedetomidine in patients with Familial Dysautonomia (FD) during a rapid cessation of autonomic crisis. The primary aims are to assess the feasibility and evaluate if measurements of heart rate, blood pressure and oxygen saturation can predict the start of an autonomic crisis. Funding Source- FDA OOPD
Interventions
DRUGMatching placebo
One matching placebo will be given under the tongue on a thin dissolvable film.
DRUGDexmedetomidine
Dexmedetomidine 120 mcg will be given under the tongue on a thin dissolvable film.
Sponsors
NYU Langone Health
Food and Drug Administration (FDA)
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
TRIPLE (Subject, Caregiver, Investigator)
Eligibility
Sex/Gender
ALL
Age
16 Years to 80 Years
Healthy volunteers
No
Inclusion criteria
* Genetically confirmed diagnosis of Familial Dysautonomia. * One or more autonomic crises during the last year. * Our database shows evidence of autonomic crisis, previous treatment with IV dexmedetomidine, and registered medical data within the year preceding the study. * Age 16 years or older * The patient has a responsible caretaker to communicate with the medical providers. * Provision of signed and dated informed consent form from the patient and responsible caregiver * Able to state willingness to comply with all study procedures and availability for the duration of the study * For males and females of reproductive age: use condoms for contraception if sexually active.
Exclusion criteria
* At the consideration of the principal investigator, the caregiver cannot fully understand the protocol, or communicate during the crisis with the Center. * The patient during the crisis, before taking the medication, has any of the following: 1. Oxygen saturation less than 92% on room air or baseline need for oxygen, change from baseline oxygen dependency. 2. Respiratory rate \>25 breaths per minute. 3. Supine blood pressure ≤ 90/860mmHg 4. Febrile illness with temperature \>100.3 F. 5. Serological signs of infection (WBC count \>10 g/dL, or CRP \>10 mg/L or ESR\>20, or above their steady historical baseline levels) in recent (less than one month) studies. * The patient is a female and has a positive pregnancy test. * The Montreal Cognitive Exam (MoCA) is below 25 points.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Percentage of patients with reduction of Autonomic crisis severity assessment scores (ACSAS) to ≤ 5 points | Up to 2 hours post administration | ACSAS tool will be used to measure objectively and record signs and symptoms of autonomic crisis, which includes documentation of blood pressure, heart rate, skin flushing and blotching, sweating, and behavioral changes. Scores are totaled at each timepoint (0 minutes, 15 min., 45 min., 1.5 hours, 2hr.) ranging from 0 (Normal) to 16 (most severe symptoms occurred). |
| Percentage of patients with 25% reduction in blood pressure | Up to 2 hours post administration | Patients will be monitored with a hospital-at-home (H@H) device to allow visualization of vital signs in real life. The H@H monitor (Biobeat™) is an FDA approved device and will be attached to the patient´s chest by an adhesive patch which will transmit blood pressure. Blood pressure will be monitored before taking each dose and up to 2 hours after. |
| Percentage of patients with >20% reduction in heart rate | Up to 2 hours post administration | Patients will be monitored with a hospital-at-home (H@H) device to allow visualization of vital signs in real life. The H@H monitor (Biobeat™) is an FDA approved device and will be attached to the patient´s chest by an adhesive patch which will transmit heart rate. Heart rate will be monitored before taking each dose and up to 2 hours after. |
| Percentage of patients with >50% reduction in vomiting/retching episodes | Up to 2 hours post administration | Patients will be monitored by their care givers for of episodes of vomiting/ retching before taking each dose and up to 2 hours after. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Percentage of patients with ≥ 20% reduction in hospitalizations | Up to 48 months | Study team will compare historical data to number of hospitalizations occurred after taking one or more doses. |
| Percentage of patients with ≥ 20% reduction in hospital stay duration | Up to 48 months | Study team will compare historical data to number of days during hospital stay that occurred after taking one or more doses. |
| Percentage of patients with ≥ 30% reduction in ICU stay duration | Up to 48 months | Study team will compare historical data to number of days at the ICU that occurred after taking one or more doses. |
| Change in number of medical complications | Baseline, up to 48 months | Study team will compare historical data to number of medical complications of hospitalizations occurred after taking one or more doses. |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORAlejandra Gonzalez-Duarte, MD
NYU Langone Health, NYU Dysautonomia Center
Outcome results
None listed