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The Natural History of Familial Dysautonomia

Natural History of Familial Dysautonomia

Who can join

Ages 4 and older · All sexes

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.

About the study

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.

Sponsor: NYU Langone Health · Participants: 400 · Started: Feb 22, 2017

Contact the study team

• Britney A. Paredes Lopez · Phone: 2122637225

Official record on ClinicalTrials.gov — NCT03920774

Locations in the U.S.

Conditions

• Hereditary Sensory and Autonomic Neuropathies

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.