Clinical trials: Transthyretin Gene Mutation
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
Amyloidosis
Identification of Clinically Significant Markers of ATTRv in Pre-symptomatic Mutation Carriers.
The objective of this prospective observational study is to periodically monitor pre-symptomatic subjects carrying a mutation of Transthyretin (TTR), identified in the context of a family screening of affected proband, through…
- Trial name
- NCT05754099
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Amyloid Cardiomyopathy, Transthyretin-Related
Screening for Cardiac Amyloidosis With Nuclear Imaging for Minority Populations
In this study, the investigators recruited a cohort of elderly Black and Hispanic patients with heart failure to define the number of patients who have cardiac amyloidosis by utilizing highly sensitive heart imaging and blood…
- Trial name
- SCAN-MP (NCT03812172)
- Testing
- 99mTc-PYP or 99m Tc-HDP
- Where
- 4 sites in United States
- Volunteers
- 646 people
- Sponsor
- Mathew S. Maurer, MD
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
Familial Amyloid Neuropathy, Transthyretin Amyloidosis
Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
Familial amyloid neuropathy due to transthyretin gene mutations (TTR-FAP) is a rare autosomal dominant inherited disease resulting in the abnormal multi-system deposition of amyloid proteins.
- Trial name
- PRE-TRANS (NCT03190577)
- Testing
- blood sample
- Where
- 12 sites in France
- Volunteers
- 400 people
- Sponsor
- Nantes University Hospital
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
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
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
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
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
ATTR Amyloidosis Wild Type, ATTR Gene Mutation
ATTR Cardiac Amyloidosis in a Selected Population
Patients operated for carpal tunnel syndrome (CTS) at Ålesund Hospital (200 patients) will have a biopsy to diagnose ATTR amyloidosis. Patients with positive biopsy will be examined to decide wether they have cardiac amyloidosis.
- Conditions
- ATTR Amyloidosis Wild Type, ATTR Gene Mutation, Carpal Tunnel Syndrome, Cardiac Amyloidosis
- Trial name
- NCT06458374
- Where
- Norway
- Volunteers
- 180 people
- Sponsor
- Helse Møre og Romsdal HF
Hereditary Transthyretin-mediated (ATTRv) Amyloidosis, Polyneuropathy
A Multicenter Observational Study to Evaluate the Effectiveness of Patisiran in Patients With Polyneuropathy of ATTRv Amyloidosis With a V122I or T60A Mutation
To evaluate the effectiveness of patisiran in patients with ATTRv amyloidosis with polyneuropathy who have a V122I or T60A mutation.
- Trial name
- NCT04201418
- Testing
- Patisiran
- Where
- 27 sites in United States
- Volunteers
- 67 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