The Natural History of Familial Dysautonomia

Description

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.

Conditions

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

Study Overview

Study Details

Study overview

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.

Natural History of Familial Dysautonomia

The Natural History of Familial Dysautonomia

Condition
Familial Dysautonomia (Riley-Day Syndrome)
Intervention / Treatment

-

Contacts and Locations

New York

Dysautonomia Center - School of Medicine -NYU Langone Medical Center, New York, New York, United States, 10016

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

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

Ages Eligible for Study

4 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

NYU Langone Health,

Horacio Kaufmann, MD, PRINCIPAL_INVESTIGATOR, NYU Langone Health

Study Record Dates

2025-12-31