Natural History of Familial Dysautonomia

Status: Recruiting
Location: See all (2) locations...
Study Type: Observational
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 4
Healthy Volunteers: f
View:

• 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

Locations
United States
New York
Dysautonomia Center - School of Medicine -NYU Langone Medical Center
RECRUITING
New York
Other Locations
Israel
Sheba Medical Center - Safra Children's Hospital
RECRUITING
Tel Litwinsky
Contact Information
Primary
Lee-Ann Lugg
Lee-Ann.Lugg@nyulangone.org
2122637225
Backup
Horacio Kaufmann, MD
horacio.kaufmann@nyulangone.org
Time Frame
Start Date: 2017-02-22
Estimated Completion Date: 2028-12-31
Participants
Target number of participants: 400
Treatments
Familial Dysautonomia
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.
Authors
Lucy Norcliffe-Kaufmann
Sponsors
Leads: NYU Langone Health

This content was sourced from clinicaltrials.gov

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