Ignite Creation Date:
2024-05-06 @ 5:32 PM
Last Modification Date:
2024-10-26 @ 2:31 PM
Study NCT ID:
NCT05344599
Status:
RECRUITING
Last Update Posted:
2024-03-01
First Post:
2022-04-08
Brief Title:
Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome
Sponsor:
Vanderbilt University Medical Center
Organization:
Vanderbilt University Medical Center
Study Overview
Official Title:
Estimating the Frequency and Neuro-Hormonal Characteristics of Acute Hepatic Porphyria in Postural Tachycardia Syndrome
Status:
RECRUITING
Status Verified Date:
2024-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Postural Tachycardia Syndrome POTS is the most common autonomic disorder and is estimated to affect 3000000 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 porphyriasAHPare among the diseases that present with autonomic cardiovasculartachycardiaand 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
The acute hepatic porphyriasAHPare among the diseases that present with autonomic cardiovasculartachycardiaand 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
Detailed Description:
Postural Tachycardia Syndrome POTS affects 3 million young women in the United States1These patients have a low quality of life because of chronic presyncopal symptoms and orthostatic tachycardia that occur while standing POTS can be the initial presentation of an underlying illness A substantial group of patients with POTS reported that their symptoms started after an acute illness surgical intervention substantial weight loss or after ingesting certain medications These are the same triggers for acute AHP attacks
Furthermore the demographic characteristics of AHP overlaps with that of POTS AHP also affects primarily young women in their reproductive age POTS can have a diverse presentation some patients present with axonal autonomic neuropathy and severe gastrointestinal symptoms which are co-morbid conditions also present in chronic AHP
It is within this context that investigators propose to assess the occurrence of AHP in the general POTS population identify its clinical presentation and neuro-hormonal characteristics
Rationale and Endpoints
1 To evaluate occurrence of AHPs in POTS patients with autonomic and neurovisceral symptoms referred to a National Referral Center for the treatment of Autonomic Disorder
2 To determine the autonomic and neuro-hormonal characteristics of AHP-POTS patients compared with POTS patients
Enrollment
This is a cross-sectional study conducted at the Vanderbilt Autonomic Dysfunction Clinic ADC Investigators plan to enroll patients with suspicions of POTS who are referred to the ADC for evaluation and diagnosis
Study visit
Single study visit
Participants will be asked to complete an autonomic symptoms assessment questionnaire COMPASS 31 and quality of life EQ-5D
The following laboratory analyses will be performed
Blood CBC CMP Iron studies Ferritin and iron studies Urine PBG ALA and porphyrins in a spot urine sample with results normalized to urine creatinine
Genetic testing Acute hepatic porphyria panel
Autonomic function test
Supine and Standing plasma norepinephrine will be obtained for evaluation of neuro-hormonal changes during orthostasis
Statistical Analyses
This is a pilot study that will estimate the occurrence of AHPs in POTS patients referred to a National Referral Center for the Treatment of Autonomic Disorders There is no data available on the prevalence of AHPs in POTS The prevalence of AHP is one in 6000 in whites ref Hepatol commun 2019 feb 32 193-206 Given that there are overlapping of symptoms between AHP and POTS expected that AHP would be overrepresented in POTS patients The plan is to enroll 50 POTS patients in this pilot study
Data Analysis Plan
Standard graphing and screening techniques will be used to detect outliers and to ensure data accuracy Continuous endpoints will be assessed for normality If normality is violated data transformation will be applied or non-parametric analysis methods will be considered Investigators will provide summary statistics for both continuous and categorical variables by subject groups POTS and AHP-POTS All hypotheses will be tested at the level of α005 SPSS version 230 SPSS Chicago IL will be used and the open-source statistical package R R Core Team 2019 for analyses
Furthermore the demographic characteristics of AHP overlaps with that of POTS AHP also affects primarily young women in their reproductive age POTS can have a diverse presentation some patients present with axonal autonomic neuropathy and severe gastrointestinal symptoms which are co-morbid conditions also present in chronic AHP
It is within this context that investigators propose to assess the occurrence of AHP in the general POTS population identify its clinical presentation and neuro-hormonal characteristics
Rationale and Endpoints
1 To evaluate occurrence of AHPs in POTS patients with autonomic and neurovisceral symptoms referred to a National Referral Center for the treatment of Autonomic Disorder
2 To determine the autonomic and neuro-hormonal characteristics of AHP-POTS patients compared with POTS patients
Enrollment
This is a cross-sectional study conducted at the Vanderbilt Autonomic Dysfunction Clinic ADC Investigators plan to enroll patients with suspicions of POTS who are referred to the ADC for evaluation and diagnosis
Study visit
Single study visit
Participants will be asked to complete an autonomic symptoms assessment questionnaire COMPASS 31 and quality of life EQ-5D
The following laboratory analyses will be performed
Blood CBC CMP Iron studies Ferritin and iron studies Urine PBG ALA and porphyrins in a spot urine sample with results normalized to urine creatinine
Genetic testing Acute hepatic porphyria panel
Autonomic function test
Supine and Standing plasma norepinephrine will be obtained for evaluation of neuro-hormonal changes during orthostasis
Statistical Analyses
This is a pilot study that will estimate the occurrence of AHPs in POTS patients referred to a National Referral Center for the Treatment of Autonomic Disorders There is no data available on the prevalence of AHPs in POTS The prevalence of AHP is one in 6000 in whites ref Hepatol commun 2019 feb 32 193-206 Given that there are overlapping of symptoms between AHP and POTS expected that AHP would be overrepresented in POTS patients The plan is to enroll 50 POTS patients in this pilot study
Data Analysis Plan
Standard graphing and screening techniques will be used to detect outliers and to ensure data accuracy Continuous endpoints will be assessed for normality If normality is violated data transformation will be applied or non-parametric analysis methods will be considered Investigators will provide summary statistics for both continuous and categorical variables by subject groups POTS and AHP-POTS All hypotheses will be tested at the level of α005 SPSS version 230 SPSS Chicago IL will be used and the open-source statistical package R R Core Team 2019 for analyses
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None