The Natural History of Familial Dysautonomia

Recruiting Observational Study
Familial Dysautonomia (Riley-Day Syndrome) Hereditary Sensory and Autonomic Neuropathies Hereditary Sensory and Autonomic Neuropathy 3
No Placebo Group Every participant receives an active treatment — no one gets a placebo. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
4 and older
Sex
Any
Study type
Observational
Participants needed
400 (estimated)
Sponsor
NYU Langone Health · Other
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About This Trial
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…
Trial Locations
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Eligibility Criteria
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 stu…
Contacts

Britney A. Paredes Lopez

2122637225

Britney.ParedesLopez@nyulangone.org

CONTACT

Horacio Kaufmann, MD

horacio.kaufmann@nyulangone.org

CONTACT