The Natural History of Familial Dysautonomia

NCT ID: NCT03920774

Last Updated: 2025-11-10

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 400 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2017-02-22
• Study Completion Date: 2028-12-31

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.

Detailed Description

Define the phenotypic characteristics, severity and clinical evolution of FD on a patient-by patient basis. Investigators will enroll patients with FD in a multi-center observational natural history study to evaluate their biochemical, neurological and autonomic phenotype. Investigators will follow patients to systematically study the onset and scaled severity of all clinical problems. Investigators will define progression rates of patients outside of a clinical trial to distinguish between static and progressive features, a challenge in congenital neuropathies. Investigators will continue banking blood to look for ways to monitor the disease phenotypes. Biomarkers that quantify renal, cardiovascular, respiratory, skeletal and cognitive aspects of the disease will be evaluated. This information is relevant when monitoring toxicity to drugs in clinical trials. Detailed clinical follow-up of patients with FD will allow investigators to determine when standard of care therapies (e.g., non-invasive ventilation, gastrostomy feedings) should be initiated and how these impact survival outcomes.

Specific Aim 2: Develop ways to measure progressive neurological deficits as outcome measures for future clinical trials. Investigators will test the hypothesis that worsening gait ataxia and progressive visual loss are caused by ongoing neuronal degeneration. Investigators will develop precise outcome measures based on these deficits to test the efficacy of new treatments. Investigators will prospectively evaluate longitudinal changes in the retinal structure (with optical coherence tomography) and visual function in a cohort of patients with FD. Investigators will determine the extent and severity of retinal abnormalities in all patients and how they change overtime. Investigators will establish whether structural abnormalities in the retina are correlated with disease severity and look for functional correlates as measured by visual acuity and color discrimination. Following the recent discovery that gait ataxia in patients with FD is the result of sensory deficits, investigators will perform quantitative assessments of passive joint angle matching at the knee to measure proprioceptive acuity. Investigators will determine how these measures change overtime as well as their impact on daily function and quality of life.

An organized, multi-site natural history study of patients with FD will enable investigators to define disease-specific outcomes for testing new therapies, a major breakthrough for these patients. The study also offers a unique opportunity to understand better how the brain develops when devoid of crucial sensory inputs.

Conditions

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

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

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.

No interventions assigned to this group

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 study.

• Minimum Eligible Age: 4 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

NYU Langone Health

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Horacio Kaufmann, MD

Role: PRINCIPAL_INVESTIGATOR

NYU Langone Health

Locations

Dysautonomia Center - School of Medicine -NYU Langone Medical Center

New York, New York, United States

Site Status: RECRUITING

Sheba Medical Center - Safra Children's Hospital

Tel Litwinsky, Ramat Gan, Israel

Site Status: RECRUITING

Countries

United States; Israel

Central Contacts

Britney A. Paredes Lopez

Role: CONTACT

Phone: 2122637225

Email: Britney.ParedesLopez@nyulangone.org

Horacio Kaufmann, MD

Role: CONTACT

Email: horacio.kaufmann@nyulangone.org

Facility Contacts

Britney A. Paredes Lopez

Role: primary

Horacio Kaufmann, MD

Role: backup

Bat El Bar Aluma, MD

Role: primary

Reut Ramon, MPH

Role: backup

Other Identifiers

16-01774

Identifier Type: -

Identifier Source: org_study_id