Hereditary Sensory and Autonomic Neuropathies Clinical Trial
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.
Status | Recruiting |
Enrollment | 400 |
Est. completion date | December 31, 2025 |
Est. primary completion date | February 21, 2025 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 4 Years and older |
Eligibility | 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. |
Country | Name | City | State |
---|---|---|---|
Israel | Sheba Medical Center - Safra Children's Hospital | Tel HaShomer | Ramat Gan |
United States | Dysautonomia Center - School of Medicine -NYU Langone Medical Center | New York | New York |
Lead Sponsor | Collaborator |
---|---|
NYU Langone Health |
United States, Israel,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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 | 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. | 5 years | |
Secondary | 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. | 5 years |
Status | Clinical Trial | Phase | |
---|---|---|---|
Recruiting |
NCT02696746 -
Painful Channelopathies Study
|