The Natural History of Familial Dysautonomia

NCT03920774 | Recruiting

• 1 other identifier: 16-01774
• Study Type: observational
• Target: 400
• Locations: 2 countries
• Sites: 2

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

Outcome Measures

Primary Outcomes (1)

• 1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core

  Investigators will create an enrollment database of patients with familial dysautonomia. All patients will have standardized phenotypic evaluations that will combine clinical, physiological and biochemical strategies to characterize complex autonomic phenotypes, both known and still undiscovered.

  5 years

Secondary Outcomes (2)

• To define the natural history of visual function and identify predictive biomarkers of disease progression and severity.

  5 years

• To define the natural history of gait ataxia and identify predictive biomarkers of disease progression and severity

  5 years

Study Arms (1)

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.

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This study will involve as many as 400 human subjects. Registered patients range from 3 months to 66-years in age. This is a natural history study that will collect information obtained as standard of care from patients with FD. The study will involve children as it is a genetic disease with onset at birth. Adult patients will also be enrolled.

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.

Sponsors & Collaborators

• NYU Langone Health: lead

Study Sites (2)

Dysautonomia Center - School of Medicine -NYU Langone Medical Center

New York, New York, 10016, United States

RECRUITING

Sheba Medical Center - Safra Children's Hospital

Tel Litwinsky, Ramat Gan, 52621, Israel

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

optional blood sample

MeSH Terms

Conditions

Dysautonomia, Familial; Hereditary Sensory and Autonomic Neuropathies

Condition Hierarchy (Ancestors)

Primary Dysautonomias; Autonomic Nervous System Diseases; Nervous System Diseases; Nervous System Malformations; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Horacio Kaufmann, MD

  NYU Langone Health

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Britney A. Paredes Lopez

CONTACT

2122637225; Britney.ParedesLopez@nyulangone.org

Horacio Kaufmann, MD

CONTACT

horacio.kaufmann@nyulangone.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 4, 2019
• First Posted: April 19, 2019
• Study Start: February 22, 2017
• Primary Completion (Estimated): February 21, 2027
• Study Completion (Estimated): December 31, 2028
• Last Updated: November 10, 2025

Record last verified: 2025-11

Locations

US (1); IL (1)