{"id":12951,"date":"2019-06-07T14:44:09","date_gmt":"2019-06-07T14:44:09","guid":{"rendered":"https:\/\/sbpt.org.br\/portal\/?p=12951"},"modified":"2019-06-07T14:44:09","modified_gmt":"2019-06-07T14:44:09","slug":"consulta-publica-pompe","status":"publish","type":"post","link":"https:\/\/sbpt.org.br\/portal\/consulta-publica-pompe\/","title":{"rendered":"CONITEC abre consulta p\u00fablica sobre a Doen\u00e7a de Pompe. Participe!"},"content":{"rendered":"

A Comiss\u00e3o Nacional de Incorpora\u00e7\u00e3o de Tecnologias no SUS (CONITEC) abriu a consulta p\u00fablica<\/a> n\u00ba 33 – Alfa-Alglicosidase Para Doen\u00e7a de Pompe – at\u00e9 24 de junho<\/strong>, com o objetivo de definir o protocolo cl\u00ednico e a diretriz terap\u00eautica para a Doen\u00e7a de Pompe.<\/p>\n

A Doen\u00e7a de Pompe (DP) \u00e9 uma doen\u00e7a gen\u00e9tica, causada pela defici\u00eancia da enzima alfa-glicosidase \u00e1cida (GAA), levando a ac\u00famulo progressivo de glicog\u00eanio dentro dos lisossomos, com sintomas de fraqueza muscular, deteriora\u00e7\u00e3o da fun\u00e7\u00e3o respirat\u00f3ria e morte prematura.<\/p>\n

A doen\u00e7a \u00e9 pan-\u00e9tnica e tem o padr\u00e3o de heran\u00e7a autoss\u00f4mico recessivo, com incid\u00eancia aproximada de 1\/40.000 pessoas.<\/p>\n

\u00c9 classificada em duas formas:<\/p>\n

\u2022 Doen\u00e7a de Pompe de in\u00edcio precoce \/ infantil (infantile onset Pompe Disease – IOPD<\/em>): ocorre antes de 12 meses de vida, com atraso no desenvolvimento motor, hipotonia, insufici\u00eancia respirat\u00f3ria e hipertrofia card\u00edaca. Apresenta alta mortalidade.<\/p>\n

\u2022 Doen\u00e7a de Pompe de in\u00edcio tardio (late onset Pompe Disease – LOPD<\/em>): manifesta-se em diferentes idades, da primeira at\u00e9 a s\u00e9tima d\u00e9cada de vida, com fraqueza muscular e insufici\u00eancia respirat\u00f3ria, podendo levar a hipoxigena\u00e7\u00e3o e diminui\u00e7\u00e3o da mobilidade.<\/p>\n

As dificuldades no reconhecimento da DP s\u00e3o frequentes e, na maioria dos casos, h\u00e1 um atraso entre os primeiros sintomas e o diagn\u00f3stico, chegando entre 7 a 10 anos ap\u00f3s o in\u00edcio dos sintomas na forma adulta. O diagn\u00f3stico e terap\u00eautica precoce permitem melhor desfecho cl\u00ednico.<\/p>\n

Diferente de grande parcela das doen\u00e7as neuromusculares de origem gen\u00e9tica, a DP possu\u00ed tratamento espec\u00edfico atrav\u00e9s da terapia de reposi\u00e7\u00e3o enzim\u00e1tica (TRE), que degrada o glicog\u00eanio acumulado, parando a progress\u00e3o da doen\u00e7a e permitindo melhora da sobrevida e qualidade de vida dos pacientes.<\/p>\n

O parecer inicial da CONITEC foi favor\u00e1vel \u00e0 incorpora\u00e7\u00e3o da TRE para a forma infantil da doen\u00e7a (IOPD), por\u00e9m n\u00e3o houve recomenda\u00e7\u00e3o de incorpora\u00e7\u00e3o para a forma tardia\/adulta (LOPD) no Sistema \u00danico de Sa\u00fade.<\/p>\n

A consulta p\u00fablica est\u00e1 aberta com objetivo de confirmar ou modificar a recomenda\u00e7\u00e3o inicial da CONITEC. Qualquer pessoa pode enviar contribui\u00e7\u00f5es at\u00e9 o dia 24 de junho atrav\u00e9s do link: http:\/\/conitec.gov.br\/consultas-publicas<\/a>.<\/p>\n

\n

Refer\u00eancias:
\n[1] Raben N, Plotz P, Byrne BJ. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med. 2002;2(2):145-66.
\n[2] Kishnani PS, Hwu WL, Mandel H, et al.; Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006;148(5):671-676.
\n[3] MalaCards. MalaCards Human Disease Database [Available from: https:\/\/www.malacards.org\/card\/glycogen_storage_disease_ii#genetic_variations.
\n[4] Hirschhorn R, Reuser AJJ. Glycogen Storage Disease Type II: Acid Alphaglucosidase (Acid Maltase) Deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle MD (Eds). The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001: 3389-3420.
\n[5] van der Beek NA, de Vries JM, Hagemans ML, et al. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis. 2012;7:88.
\n[6] Wens SC, Ciet P, Perez-Rovira A, et al. Lung MRI and impairment of diaphragmatic function in Pompe dis\u00acease. BMC Pulm Med. 2015;15:54.
\n[7] Kassardjian CD, Engel AG, Sorenson EJ. Electromyographic findings in 37 patients with adult-onset acid maltase deficiency. Muscle Nerve. 2015;51(5):759-61.
\n[8] Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68(2):99-109.
\n[9] Kishnani PS, Corzo D, Leslie ND, et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009;66(3):329-35.<\/p>\n","protected":false},"excerpt":{"rendered":"

A Comiss\u00e3o Nacional de Incorpora\u00e7\u00e3o de Tecnologias no SUS (CONITEC) abriu a consulta p\u00fablica n\u00ba 33 – Alfa-Alglicosidase Para Doen\u00e7a de Pompe – at\u00e9 24 de junho, com o objetivo de definir o protocolo cl\u00ednico e a diretriz terap\u00eautica para a Doen\u00e7a de Pompe. A Doen\u00e7a de Pompe (DP) \u00e9 uma doen\u00e7a gen\u00e9tica, causada pela defici\u00eancia da enzima […]<\/p>\n","protected":false},"author":3,"featured_media":12932,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"ngg_post_thumbnail":0,"footnotes":""},"categories":[68],"tags":[619,625,626,31,620,627,34],"class_list":["post-12951","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticias","tag-doenca-de-pompe","tag-dp","tag-genetica","tag-pneumologia","tag-pompe","tag-sanofi","tag-sbpt"],"acf":[],"yoast_head":"\nCONITEC abre consulta p\u00fablica sobre a Doen\u00e7a de Pompe. 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