NCT03920774|Recruiting
The Natural History of Familial Dysautonomia
Natural History of Familial Dysautonomia
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Natural History of Familial Dysautonomia
Sponsor study identifier
observational
400
2 countries
2
Study Start
February 22, 2017
Actual (reported)Primary Completion
February 21, 2027
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
February 22, 2017
Actual (reported)April 4, 2019
Actual (reported)April 19, 2019
Actual (reported)February 21, 2027
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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
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
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.
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.
Dysautonomia Center - School of Medicine -NYU Langone Medical Center
New York, New York, 10016, United States
Sheba Medical Center - Safra Children's Hospital
Tel Litwinsky, Ramat Gan, 52621, Israel
optional blood sample
Horacio Kaufmann, MD
NYU Langone Health
First Submitted
April 4, 2019
First Posted
April 19, 2019
Study Start
February 22, 2017
Actual (reported)Primary Completion
February 21, 2027
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Contact the study team to confirm eligibility.
Study Completion
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
November 10, 2025
Record last verified: 2025-11
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