{"id":18141,"date":"2026-02-19T13:39:05","date_gmt":"2026-02-19T11:39:05","guid":{"rendered":"https:\/\/jurmed.ro\/medici\/?p=18141"},"modified":"2026-02-19T13:39:05","modified_gmt":"2026-02-19T11:39:05","slug":"administrare-simplificata-pentru-tratamentul-de-atrofie-musculara-spinala","status":"publish","type":"post","link":"https:\/\/jurmed.ro\/medici\/administrare-simplificata-pentru-tratamentul-de-atrofie-musculara-spinala\/","title":{"rendered":"Administrare simplificata pentru tratamentul de atrofie musculara spinala"},"content":{"rendered":"

O noua forma farmaceutica a unei terapii existente este acum disponibila pacientilor din Romania care sufera de atrofia musculara spinala, simplificand administrarea tratamentului pentru aceasta boala. Noua optiune de tratament sub forma de comprimate filmate (tablete) se administreaza oral,\u00a0 zilnic, la domiciliu, fara a necesita proceduri complexe. Aceasta este indicata pacientilor cu varsta de doi ani sau peste, care cantaresc 20 kg sau mai mult, conform Rezumatului Caracteristicilor Produsului.<\/p>\n

\"\"<\/a>Atrofia musculara spinala (AMS) este o boala genetica rara, progresiva, caracterizata prin degenerarea neuronilor motori din maduva spinarii, ceea ce conduce la slabiciune musculara \u0219i pierderea progresiva a functiei motorii. La nivel global, AMS afecteaza aproximativ 1 din 10.000 de nou-nascuti, fiind una dintre principalele cauze genetice de mortalitate infantila[1]<\/a>. Atrofia musculara spinala (AMS) este cauzata de o mutatie a genei SMN1, care duce la un deficit al proteinei de supravietuire a neuronilor motori (SMN), esentiala pentru functionarea sistemului nervos. Lipsa acestei proteine determina afectarea progresiva a mu\u0219chilor, cu impact semnificativ asupra mobilitatii si respiratiei. In functie de varsta de debut \u0219i de severitatea simptomelor, boala se manifesta sub mai multe forme clinice, de la formele foarte severe care apar in primele luni de viata, pana la forme cu debut la varsta adulta, cu evolutie mai lenta[2]<\/a>.<\/p>\n

In Romania, medicamentul este disponibil incepand cu anul 2022 sub forma farmaceutica solu\u0163ie orala, care necesita preparare in farmacie de catre un profesionist in domeniul sanata\u0163ii si necesita refrigerare. Aceasta forma farmaceutica va ramane in continuare disponibila pacientilor.<\/p>\n

Tratamentul, produs de compania Roche, a fost utilizat pana in prezent de peste 21.000 de pacienti la nivel global. In Romania nu exista date de prevalenta pentru aceasta boala, insa potrivit\u00a0 datelor Casei Nationale de Asigurari de Sanatate exista aproximativ 250-280 de pacienti cu AMS in tratament, majoritatea fiind copii. Tratamentul este disponibil gratuit pacientilor diagnosticati cu aceasta boala, in cadrul Programului National de Boli Rare.<\/p>\n

Administrarea cat mai precoce, ideal in faza presimptomatica, a tratamentului precum \u0219i ingrijirea conform standardelor internationale pot amana debutul bolii \u0219i diminua semnificativ severitatea simptomelor, contribuind decisiv la imbunatatirea prognosticului[3]<\/a>. Implementarea unui program national de screening neonatal ar putea permite diagnosticarea precoce \u0219i initierea tratamentului inainte de aparitia simptomelor.<\/p>\n

\u201eAtrofia Musculara Spinala este o afectiune care necesita o ingrijire complexa, multidisciplinara. Progresele terapeutice, inclusiv tratamentele non-invazive cu administrare simplificata, pot avea un impact semnificativ asupra imbunatatirii calitatii vietii pacientilor. Cre\u0219terea nivelului de independenta in viata de zi cu zi contribuie la reducerea poverii ingrijirii medicale \u0219i a apartinatorilor, sustinand un management mai eficient al bolii.\u201d, a mentionat \u0218ef Lucrari Dr. Crisanda Vilciu, Institutul Clinic Fundeni, Bucuresti.<\/p>\n

Despre Roche<\/strong><\/p>\n

Fondata in 1897 in Basel, Elve\u0163ia, drept una dintre primele companii producatoare de medicamente originale la scara industriala, Roche a devenit cea mai mare companie de biotehnologie din lume si lider mondial in diagnosticul in vitro<\/em>. Compania urmareste excelen\u0163a in stiin\u0163a pentru a descoperi si dezvolta medicamente si teste de diagnostic cu scopul de a imbunata\u0163i si salva vie\u0163ile oamenilor de pe tot globul. Suntem unul dintre pionierii medicinei personalizate si ne dorim sa continuam sa transformam felul in care furnizata asistenta medicala, pentru a avea un impact cat mai mare. Compania Genentech, din Statele Unite, este de\u0163inuta in totalitate de grupul Roche. De asemenea, Roche este ac\u0163ionarul majoritar al companiei Chugai Pharmaceutical din Japonia.<\/p>\n

Prezent pe piata romaneasca inca din perioada interbelica, Roche i\u0219i redeschide reprezentanta locala in anul 1992, urmind ca in anul 2005, grupul Roche sa infiinteze societatea comerciala S.C. Roche Romania SRL care a preluat activitatea reprezentantei din Bucure\u0219ti. Roche ofera produse<\/a> \u0219i servicii care acopera intreg spectrul ingrijirilor de sanatate, pornind de la preventie, tratament \u0219i pana la monitorizarea post-tratament, in arii terapeutice majore unde exista nevoi medicale neacoperite inca. Prin intermediul Roche Romania, ambele divizii ale Grupului Roche – divizia de farmaceutice \u0219i divizia de diagnostice – sunt prezente pe piata din tara noastra, oferind produse \u0219i servicii de inalta specializare. Pentru orice informatii suplimentare, va rugam sa accesati www.roche.ro<\/a><\/p>\n

Departamentul de Comunicare al Roche Romania: andrei.vlad@roche.com<\/a>, 0728292664<\/p>\n

[1]<\/a> Bowerman et al. Disease Models & Mechanisms, 2017;(10):943-954<\/p>\n

[2]<\/a> SMA Europe. About SMA. Disponibil la: https:\/\/www.sma-europe.eu\/about-sma. Accesat februarie 2026.<\/p>\n

[3]<\/a> A Guide to the 2017 International Standards of Care for SMA,<\/p>\n

https:\/\/www.treat-nmd.org\/wp-content\/uploads\/2023\/02\/SMA-In-English-1.pdf<\/a>. \u00a0Accesat februarie 2026.<\/p>\n","protected":false},"excerpt":{"rendered":"

O noua forma farmaceutica a unei terapii existente este acum disponibila pacientilor din Romania care sufera de atrofia musculara spinala, simplificand administrarea tratamentului pentru aceasta boala. Noua optiune de tratament […]<\/p>\n","protected":false},"author":6,"featured_media":7607,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[1],"tags":[1318,694],"class_list":["post-18141","post","type-post","status-publish","format-standard","has-post-thumbnail","category-stiri-noutati","tag-atrofiei-musculara-spinala","tag-roche"],"yoast_head":"\nAtrofia musculara spinala este o boala genetica rara<\/title>\n<meta name=\"description\" content=\"Atrofia musculara spinala (AMS) este o boala genetica rara, progresiva, caracterizata prin degenerarea neuronilor motori din maduva spinarii\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/jurmed.ro\/medici\/administrare-simplificata-pentru-tratamentul-de-atrofie-musculara-spinala\/\" \/>\n<meta property=\"og:locale\" content=\"ro_RO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Atrofia musculara spinala este o boala genetica rara\" \/>\n<meta property=\"og:description\" content=\"Atrofia musculara spinala (AMS) este o boala genetica rara, progresiva, caracterizata prin degenerarea neuronilor motori din maduva spinarii\" \/>\n<meta property=\"og:url\" content=\"https:\/\/jurmed.ro\/medici\/administrare-simplificata-pentru-tratamentul-de-atrofie-musculara-spinala\/\" \/>\n<meta property=\"og:site_name\" content=\"Jurmed - 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