Recruiting

Observational Study

Sponsor:

NYU Langone Health

Code:

NCT03920774

Conditions

Familial Dysautonomia (Riley-Day Syndrome)

Hereditary Sensory and Autonomic Neuropathies

Hereditary Sensory and Autonomic Neuropathy 3

Eligibility Criteria

Sex: All

Age: 4+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Familial Dysautonomia (Riley-Day Syndrome)

Hereditary Sensory and Autonomic Neuropathies

Hereditary Sensory and Autonomic Neuropathy 3

Study ID

NCT03920774

Start date

Feb 22, 2017

Status verified date

Nov, 2025

Completion date

Dec 31, 2028

Anticipated

Primary completion date

Feb 21, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 4+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

400 participants

Anticipated

Interventions and Outcome Measures

Arms

Familial Dysautonomia

Patients diagnosed with familial dysautonomia, a genetic disorder that affects the development and survival of nerve cells in the autonomic nervous system. It primarily affects neurons that control involuntary actions like regulation of blood pressure and breathing. It also affects the sensory nervous system and the perception of pain, heat and cold.

Primary outcome measure

  • 1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Britney A. Paredes Lopez

2122637225Britney.ParedesLopez@nyulangone.org

Horacio Kaufmann, MD

horacio.kaufmann@nyulangone.org

Locations

Dysautonomia Center - School of Medicine -NYU Langone Medical Center

Recruiting

New York, New York, United States, 10016

Contacts

Britney A. Paredes Lopez

212-263-7225Britney.ParedesLopez@nyulangone.org

Horacio Kaufmann, MD

horacio.kaufmann@nyulangone.org

Principal Investigator:

Horacio Kaufmann, MD

More Information

Sponsor

NYU Langone Health

Last update posted

Nov 10, 2025

Last verified

Nov, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by NYU Langone Health on 2025-11-10.