Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome

NCT05344599 | Active Not Recruiting DMC

• 1 other identifier: 210724
• Study Type: observational
• Target: 70
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

POTS

Outcome Measures

Primary Outcomes (1)

• AHP Case ascertainment in POTS patients

  Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome

  During the intervention

Interventions

Autonomic Function Testing DIAGNOSTIC_TEST

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 DIAGNOSTIC_TEST

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

Urine Testing DIAGNOSTIC_TEST

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

Blood laboratory Testing DIAGNOSTIC_TEST

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

Eligibility Criteria

• Age: 18 Years - 65 Years
• Gender Eligibility Details: Yes, gender self-identity
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Postural Tachycardia Syndrome

You may qualify if:

• Age 18 - 65 years
• Individuals having an established diagnosis of POTS defined as the presence of presyncopal symptoms for more than 6 months and orthostatic tachycardia (\>30 bpm increase in HR within 10 min after assuming upright position)
• The present of one of the following criteria:
• Family history of acute hepatic porphyria 3.2 Unexplained recurrent (more than one), prolonged (\>24 hours) episode of severe, diffuse (poorly localized) abdominal pain AND at least TWO of the following:
• Red to brownish urine.
• Blistering skin lesions on sun-exposed areas.
• Peripheral nervous system manifestations occurring around the time of abdominal pain (i.e., motor neuropathy (paresis), sensory neuropathy (numbness, tingling, limb pain).
• Central nervous system manifestations occurring around the time of abdominal pain (i.e. confusion, anxiety, seizures, hallucinations).
• Autonomic nervous system manifestations occurring around the time of abdominal pain (i.e. hyponatremia(Na\<lower limit of normal)), tachycardia, hypertension, nausea and vomiting, constipation).

You may not qualify if:

• Pregnant or breastfeeding women
• type 2 diabetes mellitus
• History of alcohol or drug abuse
• Inability to provide informed consent or comply with protocol

Sponsors & Collaborators

• Vanderbilt University Medical Center: lead

Study Sites (1)

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

Location

Related Publications (5)

• Robertson D. The epidemic of orthostatic tachycardia and orthostatic intolerance. Am J Med Sci. 1999 Feb;317(2):75-7. doi: 10.1097/00000441-199902000-00001. No abstract available.

  PMID: 10037110 RESULT

• Garland EM, Raj SR, Black BK, Harris PA, Robertson D. The hemodynamic and neurohumoral phenotype of postural tachycardia syndrome. Neurology. 2007 Aug 21;69(8):790-8. doi: 10.1212/01.wnl.0000267663.05398.40.

  PMID: 17709712 RESULT

• Schondorf R, Low PA. Idiopathic postural orthostatic tachycardia syndrome: an attenuated form of acute pandysautonomia? Neurology. 1993 Jan;43(1):132-7. doi: 10.1212/wnl.43.1_part_1.132.

  PMID: 8423877 RESULT

• Raj SR. The Postural Tachycardia Syndrome (POTS): pathophysiology, diagnosis & management. Indian Pacing Electrophysiol J. 2006 Apr 1;6(2):84-99.

  PMID: 16943900 RESULT

• Loavenbruck A, Iturrino J, Singer W, Sletten DM, Low PA, Zinsmeister AR, Bharucha AE. Disturbances of gastrointestinal transit and autonomic functions in postural orthostatic tachycardia syndrome. Neurogastroenterol Motil. 2015 Jan;27(1):92-8. doi: 10.1111/nmo.12480. Epub 2014 Dec 6.

  PMID: 25483980 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Whole Blood, Serum Urine, Saliva

MeSH Terms

Conditions

Postural Orthostatic Tachycardia Syndrome; Coproporphyria, Hereditary

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Orthostatic Intolerance; Primary Dysautonomias; Autonomic Nervous System Diseases; Nervous System Diseases; Porphyrias, Hepatic; Liver Diseases; Digestive System Diseases; Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases; Porphyrias; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Cyndya Shibao, M.D

  Vanderbilt University Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: April 8, 2022
• First Posted: April 25, 2022
• Study Start: January 19, 2022
• Primary Completion: December 30, 2024
• Study Completion (Estimated): June 30, 2026
• Last Updated: January 23, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)