www.neurologiepropraxi.cz / Neurol. praxi. 2025;26(4):302-309 / NEUROLOGIE PRO PRAXI 309 PŘEHLEDOVÉ ČLÁNKY Genová terapie (vybraných) neurologických onemocnění LITERATURA 1. Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. Med Genet. 2016;53:145-151. 2. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy. Lancet Neurology. 2018. 3. Bönnemann CG, Belluscio BA, Braun S, et al. Dystrophin Immunity after Gene Therapy for Duchenne’s Muscular Dystrophy. N Engl J Med. 2023;388(24):2294-2296. 4. European Medicines Agency (EMA) (online) https://www. ema.europa.eu/en/documents/product-information/libmeldy-epar-product-information_en.pdf. 5. European Medicines Agency (EMA) (online) https://www. ema.europa.eu/en/documents/product-information/zolgensma-epar-product-information_en.pdf. 6. Hoon Lee B, Deng S, Chiriboga CA, et al. Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years. Neurology. 2022;99(14):e1527-e1537. 7. International Commission on the Clinical Use of Human Germline Genome Editing. Heritable Human Genome Editing. Kniha. 2020. 8. Kirschner J, Butoianu N, Goemans N, et al. European ad- -hoc consensus statement on gene replacement therapy for spinal muscular atrophy. Eur J Paediatr Neurol. 2020;28:38-43. 9. Kirschner J, Bernert G, Butoianu N, et al. Update: European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. Eur J Paediatr Neurol. 2024;51:7378. 10. Kohn DB, Sadelain M, Glorioso JC. Occurrence of leukaemia following gene therapy of X-linked SCID. Nat Rev Cancer. 2003;3(7):477-88. 11. Landfeldt E, Thompson R, Sejersen T, et al. Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta‑analysis. European Journal of Epidemiology. 2020;35:643-653. 12. Lugowska A, Poninska J, Krajewski P, et al. Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? PLoS One. 2011;6(6):e20218. 13. Mendell JR, Al-Zaidy SA, Lehman KJ, et al. Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy. JAMA Neurol. 2021;78(7):834-841. 14. Nařízení Evropského parlamentu a rady (ES) č. 1394/2007. Úřední věstník Evropské unie. 2007. 15. Palfi S, Gurruchaga JM, Ralph GS, et al. Long-term safety and tolerability of ProSavin, a lentiviral vector-based gene therapy for Parkinson's disease: a dose escalation, open- -label, phase 1/2 trial. The Lancet. 2014;383(9923):1138-1146. 16. Philippidis A. Novartis Confirms Deaths of 2 Patients Treated with Gene Therapy Zolgensma. Genetic Engineering & Biotechnology News August 12, 2022. 17. Rare Disease Database. X-linked adrenoleukodystrophy. National Organization for Rare Diseases. https://rarediseases. org/rare-diseases/adrenoleukodystrophy/. Published 2019. Accessed October 26, 2022. 18. Rosenberg SA, Aebersold P, Cornetta K, et al. Gene Transfer into Humans – Immunotherapy of Patients with Advanced Melanoma, Using Tumor-Infiltrating Lymphocytes Modified by Retroviral Gene Transduction. N Engl J Med. 323:570-578. 19. Sehara Y, Fujimoto KI, Ikeguchi K. Persistent Expression of Dopamine-Synthesizing Enzymes 15 Years After Gene Transfer in a Primate Model of Parkinson's Disease. Hum Gene Ther Clin Dev. 2017;28(2):74-79. 20. Shaimardanova AA, Chulpanova DS, Solovyeva VV, et al. Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches. Front. Med., 2020. 21. Shaimardanova AA, Chulpanova DS, Mulagovova AL, et al. Gene and Cell Therapy for Epilepsy: A Mini Review. Front. Mol. Neurosci., 11 May 2022. 22. Stolberg, Sheryl Gay (November 28, 1999). "The Biotech Death of Jesse Gelsinger". The New York Times Magazine. 23. Turner TJ, Zourray C, Schorge S, et al. Recent advances in gene therapy for neurodevelopmental disorders with epilepsy. J Neurochem. 2021;157(2):229-262. 24. US Food and Drug Administration (online) https://www. fda.gov/vaccines-blood-biologics/skysona. 25. US Food and Drug Administration (online) https://www. fda.gov/news-events/press-announcements/fda-approves- -first-gene-therapy-children-metachromatic-leukodystrophy. 26. US Food and Drug Administration (online) https://www.fda. gov/vaccines-blood-biologics/tissue-tissue-products/elevidys. 27. Verhaart ECI, Robertson A, Wilson IJ, et al. Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review. Orphanet Journal of Rare Diseases. 2017;12:124. 28. Vission research report(online) https://www.visionresearchreports.com/cell-and-gene-therapy-market/39387. 29. Vockley J, Brunetti-Pierri N, Chung WK, et al. The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare. Genetics in Medicine. 2023;25:100022. 30. Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet Journal of Rare Diseases (2017). 31. Wadbudhe AM, Meshram RJ, Tidke SC. Severe Combined Immunodeficiency (SCID) and Its New Treatment Modalities. Cureus. 2023 Oct;15(10): e47759. 32. Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet Journal of Rare Diseases. 2017;12:1229. 33. Yin-Hsiu Ch, Ni-Chung L, Sheng-Hong T, et al. Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. Lancet Child Adolesc Health. 2017 Dec;1(4):265-273. 34. Young CM, Quinn C, Trusheim MR. Durable cell and gene therapy potential patient and financial impact: US projections of product approvals, patients treated, and product revenues. Drug Discov Today. 2022;27(1):17-30. Máme pro vás odborný kongres zcela zdarma. Právě jste dokončili studium medicíny?
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