Familial Dysautonomia (Riley-Day Syndrome)NCT03920774
The Natural History of Familial Dysautonomia
An observational study of Familial Dysautonomia (Riley-Day Syndrome) and Hereditary Sensory and Autonomic Neuropathies, run by NYU Langone Health at 2 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Familial Dysautonomia (Riley-Day Syndrome), Hereditary Sensory and Autonomic Neuropathies, Hereditary Sensory and Autonomic Neuropathy 3
- How many people
- 400 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 22 Feb 2017to 31 Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Subjects that do not wish to be a part of the study.
Trial locations and contacts
2 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
Horacio Kaufmann, MD contact
2 sites in 2 countries
United States1 site, 1 recruiting
- Recruiting
Dysautonomia Center - School of Medicine -NYU Langone Medical Center
New York, New York, 10016
Britney A. Paredes Lopez, 2122637225, Britney.ParedesLopez@nyulangone.org
Horacio Kaufmann, MD, horacio.kaufmann@nyulangone.org
Israel1 site, 1 recruiting
- Recruiting
Sheba Medical Center - Safra Children's Hospital
Tel HaShomer, Ramat Gan, 52621
Bat El Bar Aluma, MD, +972 52 666 8335, BatEl.BarAluma@sheba.health.gov.il
Reut Ramon, MPH, +972 52 666 7031, Reut.Ramon@sheba.health.gov.il
About this study
Official title: Natural History of Familial Dysautonomia
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.
Read the 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
- Medical subject headings
- Dysautonomia, Familial, Hereditary Sensory and Autonomic Neuropathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 5 years
Secondary outcomes (2)
To define the natural history of visual function and identify predictive biomarkers of disease progression and severity.
Investigators will map the natural history of visual function including retinal structure and visual acuity and test the hypothesis that worsening visual loss is caused by ongoing neuronal degeneration.
Measured: 5 years
To define the natural history of gait ataxia and identify predictive biomarkers of disease progression and severity
Investigators will map the natural history of gait ataxia and test the hypothesis that progressive ataxia is correlated with increasing loss of proprioceptive acuity caused by ongoing death of sensory neurons.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Apr 2019
- Study start22 Feb 2017
- Primary completion21 Feb 2027 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial Dysautonomia (Riley-Day Syndrome)Studies of the same condition, open and under way.
- More trials run by NYU Langone HealthThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- NYU Langone Health
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Horacio Kaufmann, MD, Principal investigator, NYU Langone Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03920774
- Sponsor's protocol ID
- 16-01774
- Status last verified
- Nov 2026
- First submitted
- 4 Apr 2019
- Last updated
- 4 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Familial Dysautonomia
- ClinicalTrials.gov ID
- NCT03920774
- Acronym / sponsor ID
- 16-01774
- Conditions
- Familial Dysautonomia (Riley-Day Syndrome), Hereditary Sensory and Autonomic Neuropathies, Hereditary Sensory and Autonomic Neuropathy 3
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- NYU Langone HealthUniversity, hospital or other
- Study start
- 22 Feb 2017 (actual)
- Primary completion
- 21 Feb 2027 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 19 Apr 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (1 listed)
- Subjects that do not wish to be a part of the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core
Time frame: 5 years
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.
2 secondary outcomes
To define the natural history of visual function and identify predictive biomarkers of disease progression and severity.
Time frame: 5 years
To define the natural history of gait ataxia and identify predictive biomarkers of disease progression and severity
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Nov 2026.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Horacio Kaufmann, MD contact
Horacio Kaufmann, MD principal investigator
NYU Langone Health
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Dysautonomia (Riley-Day Syndrome) and Hereditary Sensory and Autonomic Neuropathies, run by NYU Langone Health at 2 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 4 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States, Israel. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Britney A. Paredes Lopez (2122637225, Britney.ParedesLopez@nyulangone.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Nov 2026; AzTrials last refreshed its copy on 8 Nov 2026.