Hereditary Transthyretin-mediated (ATTRv) Amyloidosis, Polyneuropathy
Conditions
Keywords
Valine to isoleucine substitution at position 122, V122I, Threonine to alanine substitution at position 60, T60A, Familial Amyloid Polyneuropathies, ATTR, Transthyretin amyloidosis, Transthyretin, Amyloidosis, TTR-mediated Amyloidosis, RNAi therapeutic, FAP, Polyneuropathies, Amyloid neuropathies, Amyloid neuropathies, familial, Amyloidosis, familial, Peripheral nervous system diseases, Nervous system diseases, TTR, Neuromuscular diseases, Proteostasis deficiencies, Metabolic diseases, Heredodegenerative disorders, nervous system, Neurodegenerative diseases, Genetic diseases, inborn, Metabolism, inborn errors, ATTRv
Brief summary
To evaluate the effectiveness of patisiran in patients with ATTRv amyloidosis with polyneuropathy who have a V122I or T60A mutation.
Interventions
DRUGPatisiran
Patisiran-lipid complex injection, for intravenous use
Sponsors
Alnylam Pharmaceuticals
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Diagnosed with ATTRv amyloidosis with polyneuropathy, with a documented V122I or T60A mutation * PND score of I-IIIB at baseline. * Exposure to commercial patisiran in one of the 3 cohorts: * Prospective Cohort: Naive to patisiran treatment at the time of enrollment with intention to initiate treatment with patisiran. * Mixed cohort: Currently on commercial patisiran therapy for less than 12 months at study enrollment. * Retrospective cohort: Exposed to commercial patisiran treatment for at least 12 months prior to study enrollment, regardless of current treatment status at enrollment.
Exclusion criteria
* New York Heart Association (NYHA) heart failure classification ≥3 * Karnofsky Performance Status (KPS) \<60% * Unstable congestive heart failure (CHF) * Known primary amyloidosis (AL) or leptomeningeal amyloidosis * Prior major organ transplant * Previously received patisiran * Previous treatment with a TTR silencing therapy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Percentage of Participants with Stable or Improved Polyneuropathy Disability (PND) Score at 12 Months Relative to Baseline | Baseline, Month 12 | PND Scores: Stage 0=No symptoms, Stage 1=Sensory disturbances but preserved walking capability, Stage 2=Impaired walking capacity, but ability to walk without a stick or crutches, Stage 3A/B=Walking with the help of 1 or 2 sticks or crutches, Stage 4=confined to wheel chair or bedridden. |
Countries
United States
Outcome results
None listed