Phenotyping of Postural Orthostatic Tachycardia Syndrome (POTS)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: multimodal diagnostic testing.
- Who it may be relevant to
- Registry conditions: Postural Orthostatic Tachycardia Syndrome. Basic parameters: from 14 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Multimodality Deep Phenotyping of Postural Orthostatic Tachycardia Syndrome (POTS), Aim 1
Overview
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 test multimodal diagnostic testing
Serological testing, cardiac MRI, skin biopsy, cardiovascular testing, blood volume measurements
Primary outcome measures
- Phenotyping POTS [Time frame: 2 weeks]
- Natural history [Time frame: 1 year]
Eligibility criteria
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 exclusion criteria:
- Use of amphetamine-type stimulants, diuretics, selective norepinephrine reuptake inhibitor, anticholinergic medications (including tricyclic antidepressant medications), fludrocortisone, desmopressin in past 14 days
- Use of other autonomic drugs (adrenergic agents, pyridostigmine, droxidopa, triptans, ivabradine) in past 48 hours
- Currently receiving IVIG (Intravenous immunoglobulin), subcutaneous IgG (Immunoglobulin G), or any investigational medication (in past year)
- Infusion of iv fluids in past 7 days
- History or evidence of another condition explaining symptoms or orthostatic tachycardia (e.g. structural heart disease, CSF (Cerebrospinal fluid) hypovolemia, or severe traumatic brain injury)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- UT Southwestern Medical Center — Dallas
Publications
- Raj SR, Bourne KM, Stiles LE, Miglis MG, Cortez MM, Miller AJ, Freeman R, Biaggioni I, Rowe PC, Sheldon RS, Shibao CA, Diedrich A, Systrom DM, Cook GA, Doherty TA, Abdallah HI, Grubb BP, Fedorowski A, Stewart JM, Arnold AC, Pace LA, Axelsson J, Boris JR, Moak JP, Goodman BP, Chemali KR, Chung TH, Goldstein DS, Darbari A, Vernino S. Postural orthostatic tachycardia syndrome (POTS): Priorities for P PMID 34246578
- Bryarly M, Phillips LT, Fu Q, Vernino S, Levine BD. Postural Orthostatic Tachycardia Syndrome: JACC Focus Seminar. J Am Coll Cardiol. 2019 Mar 19;73(10):1207-1228. doi: 10.1016/j.jacc.2018.11.059. PMID 30871704
Identifiers
NCT: NCT06292104 · STU-2023-0589 · 1R01HL166272-01A1