MedTrace Logo

Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome

NCT05344599 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 70

Last updated 2026-01-23

No results posted yet for this study

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.

Conditions

  • Postural Orthostatic Tachycardia Syndrome
  • Acute Hepatic Porphyria

Interventions

DIAGNOSTIC_TEST

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.

DIAGNOSTIC_TEST

Genetic Testing

Genetic testing: for Acute hepatic porphyria panel - with intent to use Saliva kit

DIAGNOSTIC_TEST

Urine Testing

Urine PBG, ALA and porphyrins in a spot urine sample with results normalized to urine creatinine

DIAGNOSTIC_TEST

Blood laboratory Testing

To determine the following laboratory analyses: CBC, CMP, Iron studies (Ferritin and iron studies)

Sponsors & Collaborators

  • Vanderbilt University Medical Center

    lead OTHER

Principal Investigators

  • Cyndya Shibao, M.D · Vanderbilt University Medical Center

Eligibility

Min Age
18 Years
Max Age
65 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-01-19
Primary Completion
2024-12-30
Completion
2026-06-30

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05344599 on ClinicalTrials.gov