Successful experience of tofacitinib treatment in patients with Fibrodysplasia Ossificans Progressiva.

Nikishina, Irina P; Arsenyeva, Svetlana V; Matkava, Valeria G; Arefieva, Alia N; Kaleda, Mariya I; Smirnov, Alexandr V; Blank, Leonid M; Kostik, Mikhail M

Nikishina, Irina P; Arsenyeva, Svetlana V; Matkava, Valeria G; Arefieva, Alia N; Kaleda, Mariya I; Smirnov, Alexandr V; Blank, Leonid M; Kostik, Mikhail M.

Afiliación

Nikishina IP; V.A. Nasonova Research Institute of Rheumatology, Kashirskoe shosse, 34A, Moscow, 115522, Russia. irpetnik_vip@mail.ru.
Arsenyeva SV; V.A. Nasonova Research Institute of Rheumatology, Kashirskoe shosse, 34A, Moscow, 115522, Russia.
Matkava VG; V.A. Nasonova Research Institute of Rheumatology, Kashirskoe shosse, 34A, Moscow, 115522, Russia.
Arefieva AN; V.A. Nasonova Research Institute of Rheumatology, Kashirskoe shosse, 34A, Moscow, 115522, Russia.
Kaleda MI; V.A. Nasonova Research Institute of Rheumatology, Kashirskoe shosse, 34A, Moscow, 115522, Russia.
Smirnov AV; V.A. Nasonova Research Institute of Rheumatology, Kashirskoe shosse, 34A, Moscow, 115522, Russia.
Blank LM; V.A. Nasonova Research Institute of Rheumatology, Kashirskoe shosse, 34A, Moscow, 115522, Russia.
Kostik MM; Hospital Pediatry Department of Saint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russia.

Pediatr Rheumatol Online J ; 21(1): 92, 2023 Aug 29.

Article en En | MEDLINE | ID: mdl-37644581

ABSTRACT

ABSTRACT

Fibrodysplasia ossificans progressive (FOP) is an ultra-rare genetic disorder that is caused by a mutation in the ACVR1 gene and provokes severe heterotopic ossification. Since flares of the disease are associated with inflammation, it is assumed that JAK inhibitors can control active FOP due to blocking multiple signaling pathways.

Asunto(s)

Miositis Osificante; Humanos; Miositis Osificante/tratamiento farmacológico; Miositis Osificante/genética; Pacientes; Piperidinas/uso terapéutico; Inflamación; Enfermedades Raras

Palabras clave

ACVR1 gene; Autoinflammation; BMP; Bone morphogenetic protein; FOP; Fibrodysplasia ossificans progressiva; Heterotopic ossification; Spondyloarthritis-like disease; Tofacitinib

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miositis Osificante Límite: Humans Idioma: En Revista: Pediatr Rheumatol Online J Año: 2023 Tipo del documento: Article País de afiliación: Rusia

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