Natural History of Familial Dysautonomia
NYU Langone Health
Summary
The study will collect clinical information from patients with FD and allow them to give blood to help develop biological markers of the disease to aid diagnosis and treatment. This is a non-invasive, non-interventional, observation study that poses only minimal risk for participants. The study will document the clinical features of patients with FD overtime by storing their routine clinical test results in a central database. The study will involve collaborators at other specialist clinics around the world who follow/evaluate patients with FD annually. Providing blood for future use is optional.
Description
Define the phenotypic characteristics, severity and clinical evolution of FD on a patient-by patient basis. Investigators will enroll patients with FD in a multi-center observational natural history study to evaluate their biochemical, neurological and autonomic phenotype. Investigators will follow patients to systematically study the onset and scaled severity of all clinical problems. Investigators will define progression rates of patients outside of a clinical trial to distinguish between static and progressive features, a challenge in congenital neuropathies. Investigators will continue ban…
Eligibility
- Age range
- 4+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Patients of any age with a diagnosis of familial dysautonomia (FD) with molecular confirmation of the IKBKAP mutation. * Ability to provide informed consent (or assent) and comply with the study protocol Exclusion Criteria: * Subjects that do not wish to be a part of the study.
Locations (2)
- Dysautonomia Center - School of Medicine -NYU Langone Medical CenterNew York, New York
- Sheba Medical Center - Safra Children's HospitalTel Litwinsky, Ramat Gan