Amyloidosis, Heart Failure, Heart Failure, Diastolic, Transthyretin Amyloidosis
Conditions
Keywords
Transthyretin Amyloidosis, Heart Failure, Heart Failure, Diastolic, Amyloidosis
Brief summary
Recent studies have shown that transthyretin amyloidosis (ATTR) can sometimes cause a type of heart failure where the pumping function of the heart is normal, also known as Heart Failure with Preserved Ejection Fraction (HFpEF) or diastolic heart failure. In this single center diagnostic study, we will evaluate for ATTR in patients with HFpEF in order to to determine how frequently this occurs and how we can predict which heart failure patients may have TTR amyloidosis. Our goal is to identify amyloidosis in heart failure patients earlier so that they can start treatment.
Detailed description
Patients 65-years and older with HFpEF will be enrolled to participate in this single center, event driven (positive nuclear amyloid scan also known as 99mTc-pyrophosphate SPECT scan) study. During the single study visit the following will be obtained: * 99mTc-pyrophosphate SPECT scan * Blood and DNA (optional) sample collection * Questionnaires in regards to neuropathy, carpal tunnel, frailty, and Heart failure symptoms and how they may affect ones quality of life * 6-Minute Walk Test * ECG (electrocardiogram) * Echocardiogram Electronic health records will be reviewed for up to 5 years in order to determine hospitalization and survival of the study participants. Clinical outcomes of interest include a combined endpoint of days alive outside of the hospital from heart failure hospitalizations at one and five years, presence of autonomic neuropathy, presence of carpal tunnel syndrome, presence of polyneuropathy. Additionally, Individual clinical endpoints are also endpoints of interest. The results from this study will be used to determine how frequently heart failure patients have transthyretin amyloidosis in their heart and better understand their symptoms. We hope that better understanding transthyretin amyloidosis in heart failure patients will help us identify affected patients so that they can receive treatment.
Interventions
DIAGNOSTIC_TEST99mTc-pyrophosphate Scintigraphy
Cardiac Imaging Technique used to diagnose Transthyretin Cardiac Amyloidosis by use of 15 mCi of 99mTC-Pyrophosphate tracer
Sponsors
Alnylam Pharmaceuticals
Pfizer
Massachusetts General Hospital
Akcea Therapeutics
Eidos Therapeutics, a BridgeBio company
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
65 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Patients with a confirmed diagnosis of HFpEF. * Age ≥65 years old
Exclusion criteria
* End stage chronic kidney disease on dialysis (CKD stage 5 as defined as eGFR \<15mL/min) * no history of HFrEF (LVEF\<40%) with the exception of low LVEF in the setting of acute decompensation, AF RVR, ACS/MI, etc * Negative 99mTc-pyrophosphate scan within a year * Unable to lie down for 15 minutes for the 99mTc-pyrophosphate scan * Known diagnosis of amyloidosis * Severe valvular heart disease that is uncorrected (moderate to severe is considered exclusionary)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Diagnosis of 99mTc-pyrophosphate scan positive ATTR | Day 1 (day of study visit) | A cardiac disease in which misfolded proteins aggregate into amyloid fibril and deposit interstitially, leading to diastolic dysfunction and heart failure |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| New York Heart Association function classification | Day 1 (day of study visit) | Classifies the severity of a patients Heart Failure in terms of their limitations during physical activity |
| Impact of HF as assessed by Kansas City Cardiomyopathy Questionnaire | Day 1 (day of study visit) | Kansas City Cardiomyopathy Questionnaire is a questionnaire that determines in the impact of Heart Failure on their health status, such as quality of life, symptoms, function, etc.) |
| Exercise capacity as determined by a 6-minute walk test | Day 1 (day of study visit) | The 6 minute walk test is used to determine an objective measurement of a patients aerobic capacity and endurance |
Countries
United States
Contacts
CONTACTAbbie Macher, BS
CONTACTLaura Stockhausen, BS
PRINCIPAL_INVESTIGATORHanna K Gaggin, MD
Massachusetts General Hospital
Outcome results
None listed