Actively Recruiting

Age: 4Years +
All Genders
NCT03920774

The Natural History of Familial Dysautonomia

Led by NYU Langone Health · Updated on 2025-11-10

400

Participants Needed

2

Research Sites

618 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

The Natural History of Familial Dysautonomia

Who Can Participate

Age: 4Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • 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
Not Eligible

You will not qualify if you...

  • Subjects that do not wish to be a part of the study.

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 2 locations

1

Dysautonomia Center - School of Medicine -NYU Langone Medical Center

New York, New York, United States, 10016

Actively Recruiting

2

Sheba Medical Center - Safra Children's Hospital

Tel Litwinsky, Ramat Gan, Israel, 52621

Actively Recruiting

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Research Team

B

Britney A. Paredes Lopez

CONTACT

H

Horacio Kaufmann, MD

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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