The Natural History of Familial Dysautonomia

Conditions

• Familial Dysautonomia (Riley-Day Syndrome)
• Hereditary Sensory and Autonomic Neuropathies
• Hereditary Sensory and Autonomic Neuropathy 3

Eligibility Criteria

Sex

ALL

Age

4 Years - N/A

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

First listed

Apr 19, 2019

Start date

Feb 22, 2017

Status verified

Nov 2025

Primary completion

Feb 21, 2027

Completion

Dec 31, 2028

Study Design

Enrollment

400 participants (estimated)

Arms

• Arm: 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.

Primary Outcome Measure

1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core [ Time Frame: 5 years ]

Central Contacts

• Britney A. Paredes Lopez
  2122637225
  [email protected]
• Horacio Kaufmann, MD
  [email protected]

Locations (1)

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