A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis.


Journal

Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602

Informations de publication

Date de publication:
08 07 2020
Historique:
received: 30 09 2019
accepted: 04 05 2020
entrez: 10 7 2020
pubmed: 10 7 2020
medline: 22 6 2021
Statut: epublish

Résumé

Patisiran, an RNA interference therapeutic, has demonstrated robust reduction of wild-type and mutant transthyretin protein and was able to improve polyneuropathy and quality of life following 18 months of treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis. In this 24-month Phase II open-label extension study, we evaluated the effects of patisiran treatment (0.3 mg/kg intravenously every 3 weeks) on safety, serum transthyretin levels, and clinical parameters. Efficacy assessments included modified Neuropathy Impairment Score +7 (mNIS+7) and multiple disease-relevant measures. Cardiac assessments were performed in a pre-specified cardiac subgroup. Twenty-seven patients entered this study, including 12 (44%) with ambulation difficulties due to their neuropathy and 11 (41%) who met criteria for the cardiac subgroup. During treatment, the majority of adverse events were mild/moderate in severity; there were no drug-related adverse events leading to treatment discontinuation. The most common drug-related adverse events were flushing and infusion-related reactions (22% each). Patisiran resulted in rapid, robust (~ 82%), and sustained reduction of mean transthyretin levels over 24 months. A mean 6.95-point decrease (improvement) in mNIS+7 from baseline was observed at 24 months. Patisiran's impact on mNIS+7 was irrespective of concomitant tafamidis or diflunisal use, sex, or age. Clinical assessments of motor function, autonomic symptoms, disease stage, and quality of life remained stable over 24 months. No significant changes were observed for echocardiographic measures or cardiac biomarkers in the cardiac subgroup. Exploratory analyses demonstrated improvements in nerve-fiber density with corresponding reductions in amyloid burden observed in skin biopsies over 24 months. Long-term treatment with patisiran had an acceptable safety profile and was associated with halting/improvement of polyneuropathy progression in patients with hATTR amyloidosis. The study was registered at ClinicalTrials.gov (identifier: NCT01961921 ) on October 14, 2013.

Sections du résumé

BACKGROUND
Patisiran, an RNA interference therapeutic, has demonstrated robust reduction of wild-type and mutant transthyretin protein and was able to improve polyneuropathy and quality of life following 18 months of treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis. In this 24-month Phase II open-label extension study, we evaluated the effects of patisiran treatment (0.3 mg/kg intravenously every 3 weeks) on safety, serum transthyretin levels, and clinical parameters. Efficacy assessments included modified Neuropathy Impairment Score +7 (mNIS+7) and multiple disease-relevant measures. Cardiac assessments were performed in a pre-specified cardiac subgroup.
RESULTS
Twenty-seven patients entered this study, including 12 (44%) with ambulation difficulties due to their neuropathy and 11 (41%) who met criteria for the cardiac subgroup. During treatment, the majority of adverse events were mild/moderate in severity; there were no drug-related adverse events leading to treatment discontinuation. The most common drug-related adverse events were flushing and infusion-related reactions (22% each). Patisiran resulted in rapid, robust (~ 82%), and sustained reduction of mean transthyretin levels over 24 months. A mean 6.95-point decrease (improvement) in mNIS+7 from baseline was observed at 24 months. Patisiran's impact on mNIS+7 was irrespective of concomitant tafamidis or diflunisal use, sex, or age. Clinical assessments of motor function, autonomic symptoms, disease stage, and quality of life remained stable over 24 months. No significant changes were observed for echocardiographic measures or cardiac biomarkers in the cardiac subgroup. Exploratory analyses demonstrated improvements in nerve-fiber density with corresponding reductions in amyloid burden observed in skin biopsies over 24 months.
CONCLUSIONS
Long-term treatment with patisiran had an acceptable safety profile and was associated with halting/improvement of polyneuropathy progression in patients with hATTR amyloidosis.
TRIAL REGISTRATION
The study was registered at ClinicalTrials.gov (identifier: NCT01961921 ) on October 14, 2013.

Identifiants

pubmed: 32641071
doi: 10.1186/s13023-020-01399-4
pii: 10.1186/s13023-020-01399-4
pmc: PMC7341568
doi:

Substances chimiques

Prealbumin 0
RNA, Small Interfering 0
patisiran 50FKX8CB2Y

Banques de données

ClinicalTrials.gov
['NCT01961921']

Types de publication

Clinical Trial, Phase II Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

179

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Auteurs

Teresa Coelho (T)

Hospital de Santo António, Centro Hospitalar do Porto, 4099-001, Porto, Portugal. tcoelho@netcabo.pt.

David Adams (D)

National Reference Centre for Familial Amyloidotic Polyneuropathy (NNERF)/APHP/INSERM U 1195/CHU Bicêtre, 78 rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France.

Isabel Conceição (I)

Hospital de Santa Maria-CHULN, and IMM, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

Márcia Waddington-Cruz (M)

Hospital Universitário Clementino Fraga Filho, Federal University of Rio de Janeiro, Ilha do Fundao, Rio de Janeiro, CEP21941-913, Brazil.

Hartmut H Schmidt (HH)

Universitätsklinikum Münster, Waldeyerstr. 1, 48149, Munster, Germany.

Juan Buades (J)

Fundació Institut d'Investigació Sanitària Illes Balears (IdISBa), Carretera de Valldemossa, 79, Palma de Mallorca 07120, Balearic Islands, Spain; Servicio de Medicina Interna, Hospital Universitario Son Llàtzer, Carretera Manacor KM, 7198, Palma de Mallorca, Balearic Islands, Spain.

Josep Campistol (J)

Hospital Clinic, University of Barcelona, C/ Villarroel, 170, 8036, Barcelona, Spain.

John L Berk (JL)

Boston University, 72 East Concord Street, K-504, Boston, 02118, USA.

Michael Polydefkis (M)

Johns Hopkins University, 855 North Wolfe Street, Rangos 435, Baltimore, MD, 21205, USA.

Jing Jing Wang (JJ)

Alnylam Pharmaceuticals, 300 Third Street, Cambridge, MA, 02142, USA.

Jihong Chen (J)

Alnylam Pharmaceuticals, 300 Third Street, Cambridge, MA, 02142, USA.

Marianne T Sweetser (MT)

Alnylam Pharmaceuticals, 300 Third Street, Cambridge, MA, 02142, USA.

Jared Gollob (J)

Alnylam Pharmaceuticals, 300 Third Street, Cambridge, MA, 02142, USA.

Ole B Suhr (OB)

Umeå University, Universitetstorget 16, 901 87, Umeå, Sweden.

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Classifications MeSH