Postural Orthostatic Tachycardia Syndrome
Conditions
Brief summary
This is an observational study to deeply phenotype the disorder of POTS using multiple testing modalities.
Detailed description
This comprehensive multimodality deep phenotyping will improve the diagnostic approach, inform the development of new treatments, and allow the targeting of therapies to specific POTS patients. The investigators will further identify the diagnostic tools, biomarkers, and clinical outcome measures most relevant to defining the disorder in clinical practice. The specific aim is to (1) Define clinical POTS classifications from multimodal clinical and laboratory data, (2) address exercise tolerance in POTS using metabolomic assessments, (3) evaluate novel POTS-specific patient outcome measures and (4) evaluate one year outcome data for POTS Specific research tests will include blood work (for immunophenotyping and neurohormonal assessments), autonomic function testing, skin biopsy (to evaluate intraepidermal nerve fiber density), CO (Carbon Monoxide) rebreathing (for quantitative measurement of plasma volume and red blood cell mass), patient surveys (to characterize symptom profile and disease impact). Blood biosamples will be stored as a repository for future research questions.
Interventions
DIAGNOSTIC_TESTmultimodal diagnostic testing
Serological testing, cardiac MRI, skin biopsy, cardiovascular testing, blood volume measurements
Sponsors
University of Texas Southwestern Medical Center
National Heart, Lung, and Blood Institute (NHLBI)
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
14 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
POTS Patients * Age ≥ 14 years, able to provide informed consent (assent with parental consent for age \< 18) and comply with procedures * Meets consensus criteria for POTS: (1) sustained increase in heart rate ≥ 30 bpm above supine baseline within 10 min of quiet standing or upright tilt (≥ 40 bpm in individuals 12 to 19 years of age) OR sustained upright HR (heart rate) \>120 bpm, (2) absence of orthostatic hypotension, (3) symptoms with standing that improve with sitting or lying down, (4) resting supine heart rate \< 100 bpm, (5) orthostatic symptoms present for at least 6 months * Stable oral medication regimen for at least 14 days Non-POTS Control Patients * Healthy women, age 18 - 30 years, able to provide informed consent and comply with study procedures * Does NOT meet consensus criteria for postural tachycardia syndrome * No symptoms of orthostatic intolerance or dysautonomia. No history of other major medical disorder * Resting supine heart rate \< 100 bpm
Exclusion criteria
None of the following
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Phenotyping POTS | 2 weeks | Assignment of participant to a phenotypic group(s) based on analysis of multimodal data |
| Natural history | 1 year | Patient reported functional and subjective change. Surveys including COMPASS31 (Composite Autonomic Symptom Score-31) on a score of 0-100. Higher scores indicate more severe autonomic symptoms |
Countries
United States
Contacts
CONTACTSteve Hopkins
PRINCIPAL_INVESTIGATORSteven Vernino, MD PhD
University of Texas Southwestern Medical Center
Outcome results
None listed