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Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial
- Source :
- Amyloid. 25:180-188
- Publication Year :
- 2018
- Publisher :
- Informa UK Limited, 2018.
-
Abstract
- Hereditary transthyretin (ATTRm) amyloidosis is a rare, progressive and fatal disease with a range of clinical manifestations.This study comprehensively evaluates disease characteristics in a large, diverse cohort of patients with ATTRm amyloidosis.Adult patients (N = 172) with Stage 1 or Stage 2 ATTRm amyloidosis who had polyneuropathy were screened and enrolled across 24 investigative sites and 10 countries in the NEURO-TTR trial ( www.clinicaltrials.gov , NCT01737398). Medical and disease history, quality of life, laboratory data, and clinical assessments were analyzed.The NEURO-TTR patient population was diverse in age, disease severity, TTR mutation, and organ involvement. Twenty-seven different TTR mutations were present, with Val30Met being the most common (52%). One third of patients reported early onset disease (before age 50) and the average duration of neuropathy symptoms was 5.3 years. Symptoms affected multiple organs and systems, with nearly 70% of patients exhibiting broad involvement of weakness, sensory loss, and autonomic disturbance. Over 60% of patients had cardiomyopathy, with highest prevalence in the United States (72%) and lowest in South America/Australasia (33%). Cardiac biomarker NT-proBNP correlated with left ventricular wall thickness (p.001). Quality of life, measured by Norfolk QoL-DN and SF-36 patient-reported questionnaires, was significantly impaired and correlated with disease severity.Baseline data from the NEURO-TTR trial demonstrates ATTRm amyloidosis as a systemic disease with deficits in multiple organs and body systems, leading to decreased quality of life. We report concomitant presentation of polyneuropathy and cardiomyopathy in most patients, and early involvement of multiple body systems.
- Subjects :
- Adult
Male
medicine.medical_specialty
education
Cardiomyopathy
Disease
030204 cardiovascular system & hematology
Gastroenterology
Polyneuropathies
Young Adult
03 medical and health sciences
0302 clinical medicine
Internal medicine
parasitic diseases
Internal Medicine
medicine
Humans
Prealbumin
Aged
Aged, 80 and over
Amyloid Neuropathies, Familial
biology
business.industry
Amyloidosis
nutritional and metabolic diseases
Middle Aged
Oligonucleotides, Antisense
medicine.disease
Transthyretin
Baseline characteristics
Mutation
Antisense oligonucleotides
Quality of Life
biology.protein
Fatal disease
Female
Cardiomyopathies
business
Polyneuropathy
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 17442818 and 13506129
- Volume :
- 25
- Database :
- OpenAIRE
- Journal :
- Amyloid
- Accession number :
- edsair.doi.dedup.....dd9c81cd08803b7cb196351d4559093d