Familial Dysautonomia Research Update

Our Natural History Study is currently open and recruiting patients with FD. Some patients have contacted us with questions about how they could participate. Here is a summary:

There are several ways be involved:

  • Patients with FD being evaluated at the NYU Dysautonomia Center in New York or at the Sheba Medical Center in Israel will be the option to be enrolled in the Natural History Study. Both centers share the same database regardless of the different locations.
  • If, for whatever reason, you are unable to visit New York or Israel, you can still send medical records from your local doctors. In addition to receiving medical recommendations by the FD doctors, your information will be included in the database.



What type of clinical information should you send?

 Test results and medical records:

  • Your most recent sleep study report
  • Your most recent swallow study report
  • Your most recent office visit notes from your neurologist or other specialist
  • Your most recent chest-CT or Chest x-ray report. Ideally you should also send a CD/DVD with the images.
  • Your most recent eye evaluation, ideally including retinal optical coherence tomorgraphy (OCT) and other visual function tests
  • Your most recent pulmonary function tests
  • 24-hour blood pressure recordings
  • Results from regular blood or urine tests
  • Notes from hospital admissions or surgical admissions
  • A current medication list

These tests are routinely recommended for patients with FD as part of their standard medical care (you can download the complete list here). They help screen for potential problems and determine when treatments are necessary. If you are still unsure of what to send, send us any your information from any visit to a doctor. A full list of clinical tests is available here: <MORE INFO>

The FD Questionnaire:  The FD Questionnaire has been developed over several years to provide doctors with the information they need in clinical practice. It is a series of questions that cover all the body systems, how they function, and identify common complications at different stages of the disease. The questionnaire is specifically designed for patients with FD, to be filled on a yearly basis. Filling it out will help families prepare for their visits with doctors. The FD Center will send you a copy of the questionnaire as soon as you schedule your appointment (212-263-7225).

What will happen with my information? The information received will be stored in specially designed databases, an idea originally implemented by Dr. Felicia Axelrod. It will be used by the research team to answer pressing clinical research questions. It allows us to look at trends overtime and examine which treatments are truly effective
for treating FD. It allows us to look for patterns to provide guidelines that have shaped clinical practice. The study is designed to support clinical trial readiness to speed up drug development to improve the lives of patients with FD. The goal is to help other researchers working and collaborating on FD
 to use this information to support their scientific work.

Official sites for the Natural History Study of FD:  

United States: Dysautonomia Center, 530 First Avenue, Suite 9Q, New York, NY, 10016.

Israel: Sheba Medical Center, Tel Hashomer, Derech Sheba 2, Ramat Gan, Israel.

How is my information protected?

image.pngThe information collected in the natural history study is stored in a secure encrypted server supported by NYUMLC MCIT. Access to identifying information is restricted to NYULMC administered terminals. Patients should transmit their medical records through data-protected safe channels, including MyChart and NYULMC Safe Portal. Information and support can be provided. Data shared for research is de-identified, entered into a secure online data collection platform (RedCap), with controlled access.