Ärzteblatt Sachsen 8|2021
Literatur
[1] Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, u. a. How many rare diseases are there? Nat Rev Drug Discov. Februar 2020;19(2):77–8.
[2] Lutz A, Schaaf U, Roos M. Menschen mit seltenen Erkrankungen in der Hausarztpraxis - Online ZFA. 03. 14. März 2018;03(934):10–10.
[3] Kirschner J, Cathomen T. Gene Therapy for Monogenic Inherited Disorders. Dtsch Arzteblatt Int.
21. Dezember 2020;117(51–52):878–85.
[4] Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, u. a. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. Januar 2020;40(1):24–64.
[5] Giblett ER, Anderson JE, Cohen F, Pollara B, Meuwissen HJ. Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet Lond Engl. 18. November 1972;2(7786):1067–9.
[6] Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB, u. a. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol.
März 2019;143(3):852–63.
[7] Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortellaro A, u. a. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science. 28. Juni 2002;296(5577):2410–3.
[8] Kohn DB, Kuo CY. New frontiers in the therapy of primary immunodeficiency: From gene addition to gene editing. J Allergy Clin Immunol. März 2017;139(3):726–32.
[9] Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, u. a. Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science. 15. November 2013;342(6160):866–71.
[10] Jamee M, Moniri S, Zaki-Dizaji M, Olbrich P, Yazdani R, Jadidi-Niaragh F, u. a. Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review. Clin Rev Allergy Immunol.
Dezember 2020;59(3):323–33.
[11] Hammermann J, Claßen M, Schmidt S, Bend J, Ballmann M, Baumann I, u. a. S3-Leitlinie: Mukoviszidose bei Kindern in den ersten beiden Lebensjahren, Diagnostik und Therapie. :67.
[12] Burkhart M, Nährlich L. Zahlen, Daten & Fakten für Patienten & Angehörige. 2021;36.
[13] Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, Dřevínek P, u. a. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med. 3. November 2011;365(18):1663–72.
Seltene chronische und lebenslimitierende Erkrankungen im Kindesalter
Chancen und Herausforderungen
Ärzteblatt Sachsen 8|2021
[14] Kuk K, Taylor-Cousar JL. Lumacaftor and ivacaftor in the management of patients with cystic fibrosis: current evidence and future prospects. Ther Adv Respir Dis. Dezember 2015;9(6):313–26.
[15] Heijerman HGM, McKone EF, Downey DG, Van Braeckel E, Rowe SM, Tullis E, u. a. Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial. Lancet Lond Engl. 23. November 2019;394(10212):1940–8.
[16] Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, u. a. One Year of Newborn Screening for SMA - Results of a German Pilot Project. J Neuromuscul Dis. 2019;6(4):503–15.
[17] Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, u. a. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2. November 2017;377(18):1723–32.
[18] FRANCISCO EM. Zolgensma [Internet]. European Medicines Agency. 2020 [zitiert 28. März 2021]. Verfügbar unter:
https://www.ema.europa.eu/en/medicines/human/EPAR/zolgensma
[19] Baranello G, Darras BT, Day JW, Deconinck N, Klein A, Masson R, u. a. Risdiplam in Type 1 Spinal Muscular Atrophy. N Engl J Med. 11. März 2021;384(10):915–23.
[20] Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, u. a. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2. November 2017;377(18):1713–22.
[21] Wang D, Tai PWL, Gao G. Adeno-associated virus vector as a platform for gene therapy delivery. Nat Rev Drug Discov.
Mai 2019;18(5):358–78.
[22] 2021-02-04_AM-RL-XII_awD_Onasemnogen-Abeparvovec.pdf [Internet]. [zitiert 28. März 2021]. Verfügbar unter:
https://www.g-ba.de/downloads/39-261-4702/2021-02-04_AM-RL-XII_awD_Onasemnogen-Abeparvovec.pdf [23] Feldman AG, Parsons JA, Dutmer CM, Veerapandiyan A, Hafberg E, Maloney N, u. a. Subacute Liver Failure Following
Gene Replacement Therapy for Spinal Muscular Atrophy Type 1. J Pediatr. Oktober 2020;225:252-258.e1.
[24] Chand DH, Zaidman C, Arya K, Millner R, Farrar MA, Mackie FE, u. a. Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series. J Pediatr. 28. November 2020;
[25] Ärzteblatt DÄG Redaktion Deutsches. Zolgensma: Hohe Qualitätsstandards, Bewertung im Dezember [Internet].
Deutsches Ärzteblatt. 2020 [zitiert 27. April 2021]. Verfügbar unter:
https://www.aerzteblatt.de/nachrichten/118566/Zolgensma-Hohe-Qualitaetsstandards-Bewertung-im-Dezember [26] Ziegler A, Wilichowski E, Schara U, Hahn A, Müller-Felber W, Johannsen J, u. a. [Recommendations for gene therapy
of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German
representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)]. Nervenarzt.
Juni 2020;91(6):518–29.