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The purpose of this study is to:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with ATTR amyloidosis | Patients with a diagnosis of ATTR amyloidosis, hereditary or wild type, will be eligible for the study and will follow routine clinical care. | ||
| Pre-symptomatic Carriers | Pre-symptomatic carriers with a known disease-causing TTR variant will be eligible for the study and will follow routine clinical care. |
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| Measure | Description | Time Frame |
|---|---|---|
| Incidence of Adverse Events | From time of enrollment for up to 10 years | |
| Selected Events of Interest in Patients with Hereditary Transthyretin-mediated (hATTR) or Wild-type Transthyretin-mediated (wtATTR) Amyloidosis (ATTRv Amyloidosis) | Selected events of interest are defined as hepatic events, cardiovascular events, renal events, ocular events and infusion-related reactions, hypersensitivity, and other events in patients diagnosed with hATTR or wtATTR amyloidosis. | From 1 year prior to enrollment for up to 10 years |
| Health Care Provider (HCP)-Assessed Polyneuropathy (PND) Disability Score | PND Scores: Stage 0=No symptoms; Stage I=Sensory disturbances but preserved walking capabilities; Stage II=Impaired walking capacity, but ability to walk without a stick or crutches; Stage IIIA=Walking with help of 1 stick or crutch; Stage IIIB=Walking with the help of 2 sticks or crutches; Stage IV=confined to wheel chair or bedridden. | Up to 11 years |
| HCP-Assessed Familial Amyloidotic Polyneuropathy (FAP) Score | FAP Scores: Stage 0=No symptoms; Stage I=Unimpaired ambulation; mostly mild sensory, motor and autonomic neuropathy in the lower limbs; Stage II=Assistance with ambulation required, mostly moderate impairment progression to the lower limbs, upper limbs, and trunk; Stage III=Wheelchair-bound or bedridden; severe sensory, motor, and autonomic involvement of all limbs. | Up to 11 years |
| HCP-Assessed Neuropathy Impairment Score (NIS) | NIS : 74 items, assess muscle weakness, reflexes and sensation; scored separately for left, right limbs (37 items for each side). Components of muscle weakness (hip and knee flexion, hip and knee extension, ankle dorsiflexors, ankle plantar flexors, toe extensors, toe flexors) scored on scale 0 (normal) to 4 (paralysis), higher score=greater weakness. Components of reflexes (quadriceps femoris, triceps surae) and sensation (touch pressure, pin-prick, vibration, joint position) scored 0 = normal, 1= decreased, or 2 = absent. Total possible NIS score range 0-244, higher score=greater impairment. |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with a diagnosis of ATTR amyloidosis, hereditary or wild type, and pre-symptomatic carriers with a known disease-causing TTR variant will be eligible for the study.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Alnylam Clinical Trial Information Line | Contact | 1-877-ALNYLAM | clinicaltrials@alnylam.com | |
| Alnylam Clinical Trial Information Line | Contact | 1-877-256-9526 | clinicaltrials@alnylam.com |
| Name | Affiliation | Role |
|---|---|---|
| Medical Director | Alnylam Pharmaceuticals | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Clinical Trial Site | Recruiting | La Jolla | California | 92037 | United States | |
| Clinical Trial Site |
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| Up to 11 years |
| HCP-Assessed Cardiomyopathy | Cardiomyopathy will be assessed using New York Heart Association (NYHA) Class: I=No symptoms; II=Symptoms with ordinary physical activity; III=Symptoms with less than ordinary physical activity; IV=Symptoms at rest. | Up to 11 years |
| HCP- Assessed Cardiopulmonary Exercise Testing (CPET) Performance | Up to 11 years |
| Norfolk Quality of Life - Diabetic Neuropathy (QOL-DN) Total Score | Norfolk-QoL-DN: The Norfolk QOL-DN questionnaire is a standardized 35-item patient-reported outcomes measure that assesses 6 domains: physical function, large-fiber neuropathy, activities of daily living, symptoms, small-fiber neuropathy, and autonomic neuropathy. The total score ranges from -4 points (best possible quality of life) to 136 points (worst possible quality of life). | Up to 11 years |
| Kansas City Cardiomyopathy Questionnaire (KCCQ) | The KCCQ is a 23-item self-administered questionnaire developed to independently measure the patient's perception of health status, which includes heart failure symptoms, impact on physical and social function, and how their heart failure impacts their quality of life within a 2-week recall period. The KCCQ quantifies 6 domains (symptoms, physical function, quality of life, social limitation, self-efficacy, and symptom stability) and 2 summary scores (clinical and overall summary [OS] scores). | Up to 11 years |
| Rasch-built Overall Disability Scale (R-ODS) | The R-ODS is a 24-item self-administered questionnaire for assessment of the disability a patient experiences. It uses a linearly weighted categorical rating scale that specifically captures domains of activity and social participation limitations in patients. | Up to 11 years |
| Recruiting |
| Los Angeles |
| California |
| 90095 |
| United States |
| Clinical Trial Site | Recruiting | Jacksonville | Florida | 32224 | United States |
| Clinical Trial Site | Recruiting | Iowa City | Iowa | 52242 | United States |
| Clinical Trial Site | Recruiting | Kansas City | Kansas | 66160 | United States |
| Clinical Trial Site | Recruiting | Baltimore | Maryland | 21224 | United States |
| Clinical Trial Site | Completed | Boston | Massachusetts | 02127 | United States |
| Clinical Trial Site | Recruiting | New York | New York | 10034 | United States |
| Clinical Trial Site | Recruiting | Durham | North Carolina | 27710 | United States |
| Clinical Trial Site | Recruiting | Columbus | Ohio | 43210 | United States |
| Clinical Trial Site | Recruiting | Philadelphia | Pennsylvania | 19104 | United States |
| Clinical Trial Site | Recruiting | Austin | Texas | 78756 | United States |
| Clinical Trial Site | Recruiting | Houston | Texas | 77030 | United States |
| Clinical Trial Site | Recruiting | Salvador | Brazil |
| Clinical Trial Site | Recruiting | São Paulo | Brazil |
| Clinical Trial Site | Recruiting | Sofia | Bulgaria |
| Clinical Trial Site | Recruiting | Aarhus | Denmark |
| Clinical Trial Site | Completed | Copenhagen | Denmark |
| Clinical Trial Site | Recruiting | Bordeaux | France |
| Clinical Trial Site | Recruiting | Bron | France |
| Clinical Trial Site | Recruiting | Créteil | France |
| Clinical Trial Site | Recruiting | Le Kremlin-Bicêtre | France |
| Clinical Trial Site | Recruiting | Marseille | France |
| Clinical Trial Site | Recruiting | Berlin | Germany |
| Clinical Trial Site | Recruiting | Giessen | Germany |
| Clinical Trial Site | Recruiting | Hanover | Germany |
| Clinical Trial Site | Recruiting | Jerusalem | Israel |
| Clinical Trial Site | Recruiting | Ramat Gan | Israel |
| Clinical Trial Site | Recruiting | Milan | Italy |
| Clinical Trial Site | Recruiting | Naples | Italy |
| Clinical Trial Site | Recruiting | Palermo | Italy |
| Clinical Trial Site | Recruiting | Roma | Italy |
| Clinical Trial Site | Recruiting | Groningen | Netherlands |
| Clinical Trial Site | Recruiting | Lisbon | Portugal |
| Clinical Trial Site | Recruiting | Porto | Portugal |
| Clinical Trial Site | Recruiting | Barcelona | Spain |
| Clinical Trial Site | Recruiting | Madrid | Spain |
| Clinical Trial Site | Recruiting | Palma | Spain |
| Clinical Trial Site | Recruiting | New Taipei City | Taiwan |
| Clinical Trial Site | Recruiting | Taipei | Taiwan |
| ID | Term |
|---|---|
| D000686 | Amyloidosis |
| D028227 | Amyloid Neuropathies, Familial |
| D011115 | Polyneuropathies |
| C567782 | Amyloidosis, Hereditary, Transthyretin-Related |
| D017772 | Amyloid Neuropathies |
| D028226 | Amyloidosis, Familial |
| ID | Term |
|---|---|
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
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