Clinical trials: Transthyretin Gene Mutations
ATTR, ATTR Gene Mutation
PET/CT Imaging in Carriers of TTR Mutations
The purpose of this study is to determine if TTR gene carriers have early signs of a type of heart disease called amyloidosis using a new radiotracer dye (iodine-124 evuzamitide, I-124E).
- Conditions
- ATTR, ATTR Gene Mutation, Cardiomyopathy, Transthyretin Mediated Amyloidosis (ATTR)
- Trial name
- EPIC-TTR (NCT07591038)
- Testing
- Iodine-124 Evuzamitide (I-124E)
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Transthyretin Gene Mutations, Transthyretin Amyloidosis
Transthyretin Amyloidosis Outcome Survey (THAOS)
THAOS is a global, multi-center, longitudinal observational survey open to all patients with transthyretin amyloidosis (ATTR), including ATTR-PN (polyneuropathy), ATTR-CM (cardiomyopathy) and wild-type ATTR-CM.
- Trial name
- THAOS (NCT00628745)
- Testing
- None. Observational Study.
- Where
- 113 sites in United States, Argentina and 23 more
- Volunteers
- 6,718 people
- Sponsor
- Pfizer
Amyloid Neuropathies, Familial
Early and Systematic Screening in Chronic Neuropathy
TTR-FAP is a rare disabling inherited disorder that predominantly affects the peripheral nervous system and the heart. Due to an important phenotypic and genetic heterogeneity, the diagnosis is often delayed, preventing therefore…
- Trial name
- TTR-FAP (NCT03720275)
- Testing
- Systematic screening of TTR mutations
- Where
- France
- Volunteers
- 130 people
- Sponsor
- University Hospital, Bordeaux
Heart Failure
Heart Failure: Don't Forget the Role of Amyloidosis
Heart failure is defined as the inability of the heart to provide sufficient output to meet the needs of the body. It can occur in the course of a myocardial infarction, angina pectoris, hypertension, etc.
- Trial name
- TEAM-HF (NCT05501847)
- Testing
- Patient with no ventricular hypertrophy
- Where
- 2 sites in Guadeloupe, Martinique
- Volunteers
- 446 people
- Sponsor
- University Hospital Center of Martinique
Amyloidosis, Hereditary, Amyloidosis Cardiac
Subclinical Transthyretin Cardiac Amyloidosis in V122I TTR Carriers
Approximately 1.5 million of the 44 million Blacks in the United States are carriers of the valine-to-isoleucine substitution at position 122 (V122I) in the transthyretin (TTR) protein.
- Conditions
- Amyloidosis, Hereditary, Amyloidosis Cardiac, Amyloidosis, Familial, Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy
- Trial name
- NCT05489549
- Where
- 3 sites in United States
- Volunteers
- 500 people
- Sponsor
- University of Texas Southwestern Medical Center
Autonomic Nervous System Disease, Amyloid Neuropathies
Autonomic Evaluation of Patients With Hereditary Amyloidotic Cardiomyopathy: Hereditary Amyloidotic Heart Disease
Transthyretin amyloidosis exhibits a variety of possible phenotypes, the hereditary neurological form being the most commonly found and studied (familial amyloidotic polyneuropathy or FAP), which can present from oligosymptomatic…
- Trial name
- NCT05087953
- Testing
- Head-Up Tilt table test, Heart Rate Variability
- Where
- 3 sites in Brazil
- Volunteers
- 60 people
- Sponsor
- University of Sao Paulo General Hospital
Familial Amyloidotic Cardiomyopathy (FAC)
DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis
The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis
- Trial name
- NCT02252653
- Where
- 58 sites in United States, Belgium and 4 more
- Volunteers
- 1,010 people
- Sponsor
- Alnylam Pharmaceuticals
Heart Failure, Amyloid Cardiomyopathy
EOSS-ATTR Study (eHealth Based Operative Support System in ATTR-CM)
Unicenter, proof-of-concept, prospective, randomised, controlled, open-label and blinded end-point adjudication trial to assess the effect on patient-reported outcomes measures (PROMs), patient-reported experience measures…
- Conditions
- Heart Failure, Amyloid Cardiomyopathy, ATTR Amyloidosis Wild Type, ATTR Gene Mutation
- Trial name
- eOSS-ATTR (NCT06499064)
- Testing
- mHealth
- Volunteers
- 50 people
- Sponsor
- Hospital Universitari de Bellvitge
Lumbar Spinal Stenosis, Cardiac Amyloidosis
Analysis of Lumbar Spine Stenosis Specimens for Identification of Transthyretin Cardiac Amyloidosis
Primary objective: To identify older adults with transthyretin cardiac amyloidosis (ATTR-CA) early in the course of the illness, at a time when disease modifying therapies are most effective.
- Conditions
- Lumbar Spinal Stenosis, Cardiac Amyloidosis, ATTR Amyloidosis Wild Type, ATTR Gene Mutation
- Trial name
- NCT06034405
- Testing
- Tc99-PYP or Tc99-HDMP Scan
- Where
- 6 sites in United States
- Volunteers
- 1,663 people, healthy volunteers welcome
- Sponsor
- Columbia University