szmtag Gene therapy for monogenic inherited disorders—opportunities and challenges (21.12.2020)
DÄ internationalArchive51-52/2020Gene therapy for monogenic inherited disorders—opportunities and challenges

Review article

Gene therapy for monogenic inherited disorders—opportunities and challenges

Dtsch Arztebl Int 2020; 117: 878-85. DOI: 10.3238/arztebl.2020.0878

Kirschner, J; Cathomen, T

For technical reasons, the English full text will be published approximately two weeks after the German print edition has been published.

Abteilung Neuropädiatrie und Sozialpädiatrisches Zentrum, Medizinische Fakultät, Universitätsklinikum Bonn: Prof. Dr. med. Janbernd Kirschner
Institut für Transfusionsmedizin und Gentherapie, Universitätsklinikum Freiburg & Centrum für Chronische Immundefizienz, Medizinische Fakultät, Universität Freiburg: Prof. Dr. phil. Toni Cathomen
1.Paul Ehrlich Institut: Gentherapeutika. www.pei.de/DE/arzneimittel/atmp/gentherapeutika/gentherapeutika-node.html (last accessed on 26 February 2020).
2.Cornu TI, Mussolino C, Cathomen T: Refining strategies to translate genome editing to the clinic. Nat Med 2017; 23: 415–23 CrossRef MEDLINE
3.Mingozzi F, High KA: Immune responses to AAV in clinical trials. Curr Gene Ther 2007; 7: 316–24 CrossRef MEDLINE
4.Miesbach W, Schwäble J, Müller MM, Seifried E: Treatment options in hemophilia. Dtsch Arztebl Int 2019; 116: 791–8 CrossRef MEDLINE PubMed Central
5.Pasi KJ, Rangarajan S, Mitchell N, et al.: Multiyear follow-up of AAV5-hFVIII-SQ gene therapy for hemophilia A. N Engl J Med 2020; 382: 29–40 CrossRef MEDLINE
6.Perrin GQ, Herzog RW, Markusic DM: Update on clinical gene therapy for hemophilia. Blood 2019; 133: 407–14 CrossRef MEDLINE PubMed Central
7.Maguire AM, Russell S, Wellman JA, et al.: Efficacy, safety, and durability of voretigene neparvovec-rzyl in RPE65 mutation-associated inherited retinal dystrophy: results of phase 1 and 3 trials. Ophthalmology 2019; 126: 1273–85 CrossRef MEDLINE
8.Russell S, Bennett J, Wellman JA, et al.: Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet 2017; 390: 849–60 CrossRef
9.Finkel RS, Mercuri E, Darras BT, et al.: Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med 2017; 377: 1723–32 CrossRef MEDLINE
10.Mercuri E, Darras BT, Chiriboga CA, et al.: Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med 2018; 378: 625–35 CrossRef MEDLINE
11.Mendell JR, Al-Zaidy S, Shell R, et al.: Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med 2017; 377: 1713–22 CrossRef MEDLINE
12.Feldman AG, Parsons JA, Dutmer CM, et al.: Subacute liver failure following gene replacement therapy for spinal muscular atrophy Type I. J Pediatr 2020; S0022–3476(20)30682-X. Epub ahead of print.
13.Servais L, Kirschner J, Muntoni F: Randomisation versus prioritisation in a managed access programme: lessons from spinal muscular atrophy. Neuromuscul Disord 2020; 30: 267–9 CrossRef MEDLINE
14.Ziegler A, Müller-Felber W, Hahn A, von Moers A, Schara U, Kirschner J: Spinale Muskelatrophie: Gentherapie ohne Zulassung. Dtsch Arztebl 2019; 116: A-2232.
15.Kirschner J, Bernert G, v. der Hagen M, et al.: Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec. Stellungnahme der Gesellschaft für Neuropädiatrie. Monatsschr Kinderheilkd 2020; 168: 938–41 CrossRef
16.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; S1090–3798(20)30142–2.
17.Duan D: Systemic AAV micro-dystrophin gene therapy for duchenne muscular dystrophy. Mol Ther 2018; 26: 2337–56 CrossRef MEDLINE PubMed Central
18.Vandersmissen I, Biancalana V, Servais L, et al.: An integrated modelling methodology for estimating the prevalence of centronuclear myopathy. Neuromuscul Disord 2018; 28: 766–77 CrossRef MEDLINE
19.Audentes: Audentes therapeutics tresents new positive data from ASPIRO, the clinical trial evaluating AT132 in patients with X-linked myotubular myopathy (XLMTM), at the 24th International Annual Congress of the World Muscle Society. www.audentestx.com/press_release/audentes-therapeutics-presents-new-positive-data-aspiro-clinical/ (last accessed on 26 February 2020).
20.Paulk N: Gene therapy: it’s time to talk about high-dose AAV. www.genengnews.com/topics/genome-editing/gene-therapy-its-time-to-talk-about-high-dose-aav/ (last accessed on 20 July 2020) CrossRef
21.European Medicine Agency: Zusammenfassung der Merkmale des Arzneimittels Strimvelis www.ema.europa.eu/en/documents/product-information/strimvelis-epar-product-information_de.pdf (last accessed on 20 July 2020).
22.Cavazzana M, Bushman FD, Miccio A, Andre-Schmutz I, Six E: Gene therapy targeting haematopoietic stem cells for inherited diseases: progress and challenges. Nat Rev Drug Discov 2019; 18: 447–62 CrossRef MEDLINE
23.Booth C, Romano R, Roncarolo MG, Thrasher AJ: Gene therapy for primary immunodeficiency. Hum Mol Genet 2019; 28: R15–R23 CrossRef MEDLINE
24.Schuessler-Lenz M, Enzmann H, Vamvakas S: Regulators‘ advice can make a difference: European Medicines Agency approval of zynteglo for beta thalassemia. Clin Pharmacol Ther 2020; 107: 492–4 CrossRef MEDLINE PubMed Central
25.European Medicine Agency: Zusammenfassung der Merkmale des Arzneimittels Zynteglo. www.ema.europa.eu/en/documents/product-information/zynteglo-epar-product-information_de.pdf (last accessed on 20 July 2020).
26.Universitätsklinikum Regensburg: Positive Ergebnisse der Gentherapie CRISPR/ Cas9 auch bei Patienten mit Sichelzellerkrankung. www.ukr.de/imperia/md/content/ueber-uns/presse/meldungen/meldungen2020/ukr_pm_crispr-cas9_ 25_09_2020.pdf (last accessed on 1 November 2020).
27.Naehrig S, Chao CM, Naehrlich L: Cystic fibrosis—diagnosis and treatment. Dtsch Arztebl Int 2017; 114: 564–74 CrossRef MEDLINE PubMed Central
28.Alton E, Armstrong DK, Ashby D, et al.: Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial. Lancet Respir Med 2015; 3: 684–91 CrossRef
29.Yan Z, McCray PB, Jr., Engelhardt JF: Advances in gene therapy for cystic fibrosis lung disease. Hum Mol Genet 2019; 28: R88–R94 CrossRef MEDLINE PubMed Central
30.Schorling DC, Pechmann A, Kirschner J: Advances in treatment of spinal muscular atrophy—new phenotypes, new challenges, new implications for care. J Neuromuscul Dis 2020; 7: 1–13 CrossRef MEDLINE PubMed Central
31.Novartis: Zolgensma® data shows rapid, significant, clinically meaningful benefit in SMA including prolonged event- free survival, motor milestone achievement and durability now up to 5 years post-dosing www.avexis.com/Content/pdf/newsarticle-IVasset-20200323.pdf (last accessed on 8 August 2020).
32.Vill K, Kolbel H, Schwartz O, et al.: One year of newborn screening for SMA—results of a german pilot project. J Neuromuscul Dis 2019; 6: 503–15 CrossRef MEDLINE PubMed Central
33.Pechmann A, Konig K, Bernert G, et al.: SMArtCARE—a platform to collect real-life outcome data of patients with spinal muscular atrophy. Orphanet J Rare Dis 2019; 14: 18 CrossRef MEDLINE PubMed Central
34.McGettigan P, Alonso Olmo C, Plueschke K, et al.: Patient registries: an underused resource for medicines evaluation: operational proposals for increasing the use of patient registries in regulatory assessments. Drug Saf 2019; 42: 1343–51 CrossRef CrossRef CrossRef MEDLINE PubMed Central
35.Stausberg J, Maier B, Bestehorn K, et al.: Memorandum Register für die Versorgungsforschung: Update 2019. Gesundheitswesen 2020; 82: e39-e66 CrossRef MEDLINE
36.Gemeinsamer Bundes­aus­schuss: G-BA konkretisiert Verfahren zu anwendungsbegleitender Datenerhebung – Gentherapie Zolgensma erster Fall. www.g-ba.de/presse/pressemitteilungen/874/ (last accessed on 20 July 2020).
37.Korzilius H: Arzneimittel: Modelle für gerechtere Preise. Dtsch Arztebl 2019; 116: A-503 VOLLTEXT
38.European Medicine Agency: PRIME: priority medicines. www.ema.europa.eu/en/human-regulatory/research-development/prime-priority-medicines (last accessed on 26 February 2020).
39.Buning H, Srivastava A: Capsid modifications for targeting and improving the efficacy of AAV vectors. Mol Ther Methods Clin Dev 2019; 12: 248–65 CrossRef MEDLINE PubMed Central
40.World Health Organization: Nomenclature schemes for advanced
therapies. www.who.int/medicines/services/inn/Nomenclature_schemes_advanced_therapies_201707.pdf (last accessed on 20 July 2020).

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