Clinical trial NCT04201418: A Multicenter Observational Study to Evaluate the Effectiveness of Patisiran in Patients With Polyneuropathy of ATTRv Amyloidosis With a V122I or T60A Mutation
Official title: A Phase 4 Multicenter Observational Study to Evaluate the Effectiveness of Patisiran in Patients With Polyneuropathy of Hereditary Transthyretin-Mediated (ATTRv) Amyloidosis With a V122I or T60A Mutation
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Hereditary Transthyretin-mediated (ATTRv) Amyloidosis
Polyneuropathy
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
Lead sponsor: Alnylam Pharmaceuticals
Sponsor class: INDUSTRY
First posted: 2019-12-17
Enrollment: 67
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants with ATTRv amyloidosis with polyneuropathy who have a V122I or T60A mutation

Brief summary: To evaluate the effectiveness of patisiran in patients with ATTRv amyloidosis with polyneuropathy who have a V122I or T60A mutation.


Eligibility criteria: 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

Primary outcomes:
measure: Percentage of Participants with Stable or Improved Polyneuropathy Disability (PND) Score at 12 Months Relative to Baseline
timeFrame: Baseline, Month 12
Secondary outcomes:
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Clinical Trial Site
state: California
city: San Diego
country: United States
facility: Clinical Trial Site
state: California
city: Aurora
country: United States
facility: Clinical Trial Site
state: Colorado
city: Farmington
country: United States
facility: Clinical Trial Site
state: Connecticut
city: Jacksonville
country: United States
facility: Clinical Trial Site
state: Florida
city: Tampa
country: United States
facility: Clinical Trial Site
state: Florida
city: Braselton
country: United States
facility: Clinical Trial Site
state: Georgia
city: Macon
country: United States
facility: Clinical Trial Site
state: Georgia
city: Chicago
country: United States
facility: Clinical Trial Site
state: Illinois
city: Chicago
country: United States
facility: Clinical Trial Site
state: Illinois
city: Boston
country: United States
facility: Clinical Trial Site
state: Massachusetts
city: Detroit
country: United States
facility: Clinical Trial Site
state: Michigan
city: Jackson
country: United States
facility: Clinical Trial Site
state: Mississippi
city: Kansas City
country: United States
facility: Clinical Trial Site
state: Missouri
city: Omaha
country: United States
facility: Clinical Trial Site
state: Nebraska
city: Chapel Hill
country: United States
facility: Clinical Trial Site
state: North Carolina
city: Charlotte
country: United States
facility: Clinical Trial Site
state: North Carolina
city: Columbus
country: United States
facility: Clinical Trial Site
state: Ohio
city: Allentown
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Bethlehem
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Lancaster
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Pittsburgh
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Pittsburgh
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Germantown
country: United States
facility: Clinical Trial Site
state: Tennessee
city: Austin
country: United States
facility: Clinical Trial Site
state: Texas
city: San Antonio
country: United States
facility: Clinical Trial Site
state: Texas
city: Milwaukee
country: United States
facility: Clinical Trial Site
state: Wisconsin
Study officials:
affiliation: Alnylam Pharmaceuticals
name: Medical Director
role: STUDY_DIRECTOR
References: