Real-life experience with inotersen in hereditary transthyretin amyloidosis with late-onset phenotype: Data from an early-access program in Italy.


Journal

European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311

Informations de publication

Date de publication:
07 2022
Historique:
revised: 02 03 2022
received: 07 02 2022
accepted: 09 03 2022
pubmed: 16 3 2022
medline: 15 6 2022
entrez: 15 3 2022
Statut: ppublish

Résumé

Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a dominantly inherited, adult-onset, progressive, and fatal disease caused by mutations in the transthyretin gene. Therapeutic agents approved for this disease include the TTR stabilizer tafamidis and the gene-silencing drugs patisiran and inotersen. Inotersen is an antisense oligonucleotide that suppresses the hepatic production of transthyretin. After European Medical Agency approval in 2018, an early-access program was opened in Italy, and in this article, we present the long-term outcome of a cohort of Italian ATTRv patients who received inotersen within this program. This is a multicenter, observational, retrospective study of patients affected by ATTRv that started inotersen during the early-access program. The primary end point was safety. Secondary end points included change from baseline in familial amyloid polyneuropathy (FAP) stage, Polyneuropathy Disability, Neuropathy Impairment Scale, Compound Autonomic Dysfunction Test, Norfolk Quality of Life-Diabetic Neuropathy, troponin, N-terminal pro-brain natriuretic peptide, interventricular septum thickness, and body mass index. In total, 23 patients were enrolled. No patient permanently discontinued the treatment because of thrombocytopenia, and no cases of severe thrombocytopenia were observed. Five patients discontinued the treatment permanently because of voluntary withdrawal (two patients), renal failure after infective pyelonephritis, not related to inotersen, drug-related hypotension, and amyloid-negative crescentic glomerulonephritis. In seven patients, dosing frequency was reduced to every 2 weeks due to recurrent thrombocytopenia. Considering the FAP stage, only two patients worsened, whereas the other 21 patients remained stable until the last follow-up available. The long-term safety profile of inotersen is favorable. Neurologic disease severity at baseline is the main factor associated with progression.

Sections du résumé

BACKGROUND AND PURPOSE
Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a dominantly inherited, adult-onset, progressive, and fatal disease caused by mutations in the transthyretin gene. Therapeutic agents approved for this disease include the TTR stabilizer tafamidis and the gene-silencing drugs patisiran and inotersen. Inotersen is an antisense oligonucleotide that suppresses the hepatic production of transthyretin. After European Medical Agency approval in 2018, an early-access program was opened in Italy, and in this article, we present the long-term outcome of a cohort of Italian ATTRv patients who received inotersen within this program.
METHODS
This is a multicenter, observational, retrospective study of patients affected by ATTRv that started inotersen during the early-access program. The primary end point was safety. Secondary end points included change from baseline in familial amyloid polyneuropathy (FAP) stage, Polyneuropathy Disability, Neuropathy Impairment Scale, Compound Autonomic Dysfunction Test, Norfolk Quality of Life-Diabetic Neuropathy, troponin, N-terminal pro-brain natriuretic peptide, interventricular septum thickness, and body mass index.
RESULTS
In total, 23 patients were enrolled. No patient permanently discontinued the treatment because of thrombocytopenia, and no cases of severe thrombocytopenia were observed. Five patients discontinued the treatment permanently because of voluntary withdrawal (two patients), renal failure after infective pyelonephritis, not related to inotersen, drug-related hypotension, and amyloid-negative crescentic glomerulonephritis. In seven patients, dosing frequency was reduced to every 2 weeks due to recurrent thrombocytopenia. Considering the FAP stage, only two patients worsened, whereas the other 21 patients remained stable until the last follow-up available.
CONCLUSIONS
The long-term safety profile of inotersen is favorable. Neurologic disease severity at baseline is the main factor associated with progression.

Identifiants

pubmed: 35289020
doi: 10.1111/ene.15325
pmc: PMC9314115
doi:

Substances chimiques

Oligonucleotides 0
Prealbumin 0
Inotersen 0IEO0F56LV

Types de publication

Journal Article Multicenter Study Observational Study Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2148-2155

Informations de copyright

© 2022 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.

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Auteurs

Marco Luigetti (M)

Fondazione Policlinico Universitario Agostino Gemelli IRCCS UOC Neurologia, Rome, Italy.
Department of Neuroscience, Catholic University of the Sacred Heart, Rome, Italy.

Giovanni Antonini (G)

Department of Neurosciences, Mental Health and Sensory Organs, Faculty of Medicine and Psychology, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.

Andrea Di Paolantonio (A)

Department of Neuroscience, Catholic University of the Sacred Heart, Rome, Italy.

Luca Gentile (L)

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Marina Grandis (M)

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Infantile Sciences, University of Genova, Genoa, Italy.
San Martino Polyclinic Hospital, Scientific Institute for Research and Health Care, Genoa, Italy.

Luca Leonardi (L)

Department of Neurosciences, Mental Health and Sensory Organs, Faculty of Medicine and Psychology, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.

Alessandro Lozza (A)

Amyloidosis Research and Treatment Center, San Matteo Polyclinic Foundation, Scientific Institute for Research and Health Care, Pavia, Italy.

Fiore Manganelli (F)

Department of Neuroscience, Reproductive and Odontostomatological Science, University of Naples "Federico II", Naples, Italy.

Anna Mazzeo (A)

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Roberta Mussinelli (R)

Amyloidosis Research and Treatment Center, San Matteo Polyclinic Foundation, Scientific Institute for Research and Health Care, Pavia, Italy.

Filomena My (F)

UOC Neurologia Vito Fazzi Hospital, Lecce, Italy.

Laura Obici (L)

Amyloidosis Research and Treatment Center, San Matteo Polyclinic Foundation, Scientific Institute for Research and Health Care, Pavia, Italy.

Elena Maria Pennisi (E)

Neuromuscular and Rare Neurological Diseases-Neurology Unit, San Filippo Neri Hospital, Rome, Italy.

Marina Romozzi (M)

Fondazione Policlinico Universitario Agostino Gemelli IRCCS UOC Neurologia, Rome, Italy.
Department of Neuroscience, Catholic University of the Sacred Heart, Rome, Italy.

Massimo Russo (M)

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Mario Sabatelli (M)

Centro Clinico NEMO Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Alessandro Salvalaggio (A)

Department of Neurosciences, University of Padova, Padua, Italy.

Matteo Tagliapietra (M)

Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Verona, Italy.

Stefano Tozza (S)

Department of Neuroscience, Reproductive and Odontostomatological Science, University of Naples "Federico II", Naples, Italy.

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Classifications MeSH