ATTR Amyloidosis, Transthyretin-Mediated Amyloidosis
Conditions
Keywords
RNAi therapeutic, Transthyretin, TTR, Amyloidosis, Hereditary Transthyretin-mediated (hATTR) Amyloidosis, hATTR amyloidosis, Hereditary ATTR amyloidosis, Wild-type amyloidosis, wtATTR amyloidosis, ATTRv amyloidosis, ATTRwt amyloidosis, Polyneuropathy, Familial amyloid polyneuropathies, ATTR, Transthyretin amyloidosis, TTR-mediated amyloidosis, Polyneuropathies, Amyloid neuropathies, Amyloid neuropathies, familial, Amyloidosis, familial
Brief summary
The purpose of this study is to: * Describe epidemiological and clinical characteristics, natural history and real-world clinical management of ATTR amyloidosis patients * Characterize the safety and effectiveness of patisiran and vutrisiran as part of routine clinical practice in the real-world clinical setting * Describe disease emergence/progression in pre-symptomatic carriers of a known disease-causing transthyretin (TTR) variant
Interventions
None listed
Sponsors
Alnylam Pharmaceuticals
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Diagnosis of ATTR amyloidosis or documented known disease-causing TTR variant for the cohort of pre-symptomatic carriers * Germany Only: Patients must be treated per the summary of product characteristics (SmPC) for any approved treatment for ATTR amyloidosis
Exclusion criteria
* Current enrollment in a clinical trial for any investigational agent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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) | From 1 year prior to enrollment for up to 10 years | 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. |
| Health Care Provider (HCP)-Assessed Polyneuropathy (PND) Disability Score | Up to 11 years | 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. |
| HCP-Assessed Familial Amyloidotic Polyneuropathy (FAP) Score | Up to 11 years | 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. |
| HCP-Assessed Neuropathy Impairment Score (NIS) | Up to 11 years | 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. |
| HCP-Assessed Cardiomyopathy | Up to 11 years | 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. |
| HCP- Assessed Cardiopulmonary Exercise Testing (CPET) Performance | Up to 11 years | — |
| Norfolk Quality of Life - Diabetic Neuropathy (QOL-DN) Total Score | Up to 11 years | 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). |
| Kansas City Cardiomyopathy Questionnaire (KCCQ) | Up to 11 years | 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). |
| Rasch-built Overall Disability Scale (R-ODS) | Up to 11 years | 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. |
Countries
Brazil, Bulgaria, Denmark, France, Germany, Israel, Italy, Netherlands, Portugal, Spain, Taiwan, United States
Contacts
CONTACTAlnylam Clinical Trial Information Line
STUDY_DIRECTORMedical Director
Alnylam Pharmaceuticals
Outcome results
None listed