Observing the natural history of Familial Dysautonomia
Natural History of Familial Dysautonomia
NYU Langone Health · NCT03920774
This study is collecting health information and blood samples from people with Familial Dysautonomia to better understand the disease and help develop future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 400 (estimated) |
| Ages | 4 Years and up |
| Sex | All |
| Sponsor | NYU Langone Health (other) |
| Locations | 2 sites (New York, New York and 1 other locations) |
| Trial ID | NCT03920774 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect clinical information from patients diagnosed with Familial Dysautonomia (FD) and to gather blood samples to develop biological markers for the disease. It will document the clinical features and progression of FD over time by storing routine clinical test results in a central database. Collaborators from various specialist clinics worldwide will evaluate patients annually, allowing for a comprehensive understanding of the disease's phenotypic characteristics and severity. The study also seeks to establish outcome measures for future clinical trials by assessing neurological deficits.
Who should consider this trial
Good fit: Ideal candidates for this study are patients of any age with a confirmed diagnosis of Familial Dysautonomia and the IKBKAP mutation.
Not a fit: Patients who do not wish to participate in the study will not benefit from its findings.
Why it matters
Potential benefit: If successful, this study could enhance the diagnosis and treatment of Familial Dysautonomia by identifying biomarkers and understanding disease progression.
How similar studies have performed: While this study is observational and builds on existing knowledge, similar approaches in other conditions have shown promise in understanding disease progression and developing treatment strategies.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
New York, New York and 1 other locations
- Dysautonomia Center - School of Medicine -NYU Langone Medical Center — New York, New York, United States (RECRUITING)
- Sheba Medical Center - Safra Children's Hospital — Tel Litwinsky, Ramat Gan, Israel (RECRUITING)
Study contacts
- Principal investigator: Horacio Kaufmann, MD — NYU Langone Health
- Study coordinator: Britney A. Paredes Lopez
- Email: Britney.ParedesLopez@nyulangone.org
- Phone: 2122637225
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Familial Dysautonomia, Hereditary Sensory and Autonomic Neuropathies, Hereditary Sensory and Autonomic Neuropathy 3