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Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome
Sponsor: Vanderbilt University Medical Center
Summary
Postural Tachycardia Syndrome (POTS) is the most common autonomic disorder and is estimated to affect 3,000,000 individuals in the United States, with 80-85% of patients being women. The condition is characterized by a rapid increase in heart rate (HR) that occurs on standing, and chronic symptoms of cerebral hypoperfusion leading to lightheadedness, dizziness, and blurred vision. The acute hepatic porphyrias(AHP)are among the diseases that present with autonomic cardiovascular(tachycardia)and neurovisceral symptoms (abdominal pain) among others; they present with acute exacerbations Given that there is available treatment for AHP that change the natural progression of the disease, study focuses to investigate the occurrence of AHP in POTS and determine the clinical and neuro-hormonal characteristic of the POTS subgroup that will likely benefit from AHP screening. This study has one visit that involves, answering some questionnaires, coming to the lab for blood work, genetic testing, and some autonomic function tests. About 50 people will take part in this study.
Official title: Estimating the Frequency and Neuro-Hormonal Characteristics of Acute Hepatic Porphyria in Postural Tachycardia Syndrome
Key Details
Gender
All
Age Range
18 Years - 65 Years
Study Type
OBSERVATIONAL
Enrollment
70
Start Date
2022-01-19
Completion Date
2026-06-30
Last Updated
2026-01-23
Healthy Volunteers
Not specified
Interventions
Autonomic Function Testing
Autonomic function test (orthostatic blood pressure and heart rate response to tilt, heart rate response to deep breathing, the Valsalva ratio, and beat-to-beat blood pressure measurements during phases II and IV of the Valsalva maneuver, tilt, and deep breathing). These combined tests provide a measurement of adrenergic, cardiovagal responses.
Genetic Testing
Genetic testing: for Acute hepatic porphyria panel - with intent to use Saliva kit
Urine Testing
Urine PBG, ALA and porphyrins in a spot urine sample with results normalized to urine creatinine
Blood laboratory Testing
To determine the following laboratory analyses: CBC, CMP, Iron studies (Ferritin and iron studies)
Locations (1)
Vanderbilt University Medical Center
Nashville, Tennessee, United States