The Natural History of Familial Dysautonomia

Recruiting now

Conditions studied: Familial Dysautonomia (Riley-Day Syndrome), Hereditary Sensory and Autonomic Neuropathies, Hereditary Sensory and Autonomic Neuropathy 3

In brief

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.

Key facts

Study ID

NCT03920774

Run by

NYU Langone Health

People needed

400

Starts

2017-02-22

Expected to finish

2028-12-31

Last updated by the study team

2025-11-10

Who can join

Age: 4 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• Subjects that do not wish to be a part of the study.

Where it is running

• Dysautonomia Center - School of Medicine -NYU Langone Medical Center — New York, New York, United States (enrolling)
• Sheba Medical Center - Safra Children's Hospital — Tel Litwinsky, Ramat Gan, Israel (enrolling)

Full record on ClinicalTrials.gov

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