リケラボ論文検索は、全国の大学リポジトリにある学位論文・教授論文を一括検索できる論文検索サービスです。

リケラボ 全国の大学リポジトリにある学位論文・教授論文を一括検索するならリケラボ論文検索大学・研究所にある論文を検索できる

リケラボ 全国の大学リポジトリにある学位論文・教授論文を一括検索するならリケラボ論文検索大学・研究所にある論文を検索できる

大学・研究所にある論文を検索できる 「PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan」の論文概要。リケラボ論文検索は、全国の大学リポジトリにある学位論文・教授論文を一括検索できる論文検索サービスです。
リケラボ

コピーが完了しました

URLをコピーしました

論文の公開元へ論文の公開元へ
書き出し

PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan

Noguchi, Yoriko Bo, Ryosuke Nishio, Hisahide Matsumoto, Hisayuki Matsui, Keiji Yano, Yoshihiko Sugawara, Masami Ueda, Go Wijaya, Yogik O. Niba, Emma T. Shinohara, Masakazu Bouike, Yoshihiro Takeuchi, Atsuko Okamoto, Kentaro Saito, Toshio Shimomura, Hideki Lee, Tomoko Takeshima, Yasuhiro Iijima, Kazumoto Nozu, Kandai Awano, Hiroyuki 神戸大学

2022.11

概要

Spinal muscular atrophy (SMA) is a common devastating neuromuscular disorder, usually involving homozygous deletion of the SMN1 gene. Newly developed drugs can improve the motor functions of infants with SMA when treated in the early stage. To ensure early diagnosis, newborn screening for SMA (SMA-NBS) via PCR-based genetic testing with dried blood spots (DBSs) has been spreading throughout Japan. In Hyogo Prefecture, we performed a pilot study of SMA-NBS to assess newborn infants who underwent routine newborn metabolic screening between February 2021 and August 2022. Hyogo Prefecture has ~40,000 live births per year and the estimated incidence of SMA is 1 in 20,000–25,000 based on genetic testing of symptomatic patients with SMA. Here, we screened 8336 newborns and 12 screen-positive cases were detected by real-time PCR assay. Multiplex ligation-dependent probe amplification assay excluded ten false positives and identified two patients. These false positives might be related to the use of heparinized and/or diluted blood in the DBS sample. Both patients carried two copies of SMN2, one was asymptomatic and the other was symptomatic at the time of diagnosis. SMA-NBS enables us to prevent delayed diagnosis of SMA, even if it does not always allow treatment in the pre-symptomatic stage.

論文の公開元へ

関連論文

関連論文をもっと見る

参考文献

1. Nurputra, D.K.; Lai, P.S.; Harahap, N.I.F.; Morikawa, S.; Yamamoto, T.; Nishimura, N.; Kubo, Y.; Takeuchi, A.; Saito, T.; Takeshima, Y.; et al. Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials. Ann. Hum. Genet. 2013, 77, 435–463. [CrossRef]

2. Verhaart, I.E.C.; Robertson, A.; Leary, R.; McMacken, G.; König, K.; Kirschner, J.; Jones, C.C.; Cook, S.F.; Lochmüller, H. Multi- source approach to determine SMA incidence and research ready population. J. Neurol. 2017, 264, 1465–1473. [CrossRef] [PubMed]

3. Arnold, W.D.; Kassar, D.; Kissel, J.T. Spinal muscular atrophy: Diagnosis and management in a new therapeutic era. Muscle. Nerve. 2015, 51, 157–167. [CrossRef]

4. Kimizu, T.; Ida, S.; Okamoto, K.; Awano, H.; Niba, E.T.E.; Wijaya, Y.O.S.; Okazaki, S.; Shimomura, H.; Lee, T.; Tominaga, K.; et al. Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan. Int. J. Neonatal Screen. 2021, 7, 45. [CrossRef] [PubMed]

5. Lally, C.; Jones, C.; Farwell, W.; Reyna, S.P.; Cook, S.F.; Flanders, W.D. Indirect Estimation of the Prevalence of Spinal Muscular Atrophy Type I, II, and III in the United States. Orphanet J. Rare Dis. 2017, 12, 175. [CrossRef]

6. Oskoui, M.; Levy, G.; Garland, C.J.; Gray, J.M.; O′Hagen, J.; Vivo, D.C.D.; Kaufmann, P. The Changing Natural History of Spinal Muscular Atrophy Type 1. Neurology 2007, 69, 1931–1936. [CrossRef]

7. Farrar, M.A.; Park, S.B.; Vucic, S.; Carey, K.A.; Turner, B.J.; Gillingwater, T.H.; Swoboda, K.J.; Kiernan, M.C. Emerging Therapies and Challenges in Spinal Muscular Atrophy. Ann. Neurol. 2017, 81, 355–368. [CrossRef] [PubMed]

8. Lefebvre, S.; Bürglen, L.; Reboullet, S.; Clermont, O.; Burlet, P.; Viollet, L.; Benichou, B.; Cruaud, C.; Millasseau, P.; Zeviani, M. Identification and Characterization of a Spinal Muscular Atrophy-Determining Gene. Cell 1995, 80, 155–165. [CrossRef]

9. Calucho, M.; Bernal, S.; Alías, L.; March, F.; Venceslá, A.; Rodríguez-Álvarez, F.J.; Aller, E.; Fernández, R.M.; Borrego, S.; Millán, J.M.; et al. Correlation between SMA Type and SMN2 Copy Number Revisited: An Analysis of 625 Unrelated Spanish Patients and a Compilation of 2834 Reported Cases. Neuromuscul. Disord. 2018, 28, 208–215. [CrossRef]

10. Butchbach, M.E.R. Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. Front. Mol. Biosci. 2016, 3, 7. [CrossRef]

11. Finkel, R.S.; Mercuri, E.; Darras, B.T.; Connolly, A.M.; Kuntz, N.L.; Kirschner, J.; Chiriboga, C.A.; Saito, K.; Servais, L.; Tizzano, E.; et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N. Engl. J. Med. 2017, 377, 1723–1732. [CrossRef] [PubMed]

12. Mendell, J.R.; Al-Zaidy, S.; Shell, R.; Arnold, W.D.; Rodino-Klapac, L.R.; Prior, T.W.; Lowes, L.; Alfano, L.; Berry, K.; Church, K.; et al. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N. Engl. J. Med. 2017, 377, 1713–1722. [CrossRef]

13. Baranello, G.; Darras, B.T.; Day, J.W.; Deconinck, N.; Klein, A.; Masson, R.; Mercuri, E.; Rose, K.; El-Khairi, M.; Gerber, M.; et al. Risdiplam in Type 1 Spinal Muscular Atrophy. N. Engl. J. Med. 2021, 384, 915–923. [CrossRef] [PubMed]

14. Vivo, D.C.D.; Bertini, E.; Swoboda, K.J.; Hwu, W.-L.; Crawford, T.O.; Finkel, R.S.; Kirschner, J.; Kuntz, N.L.; Parsons, J.A.; Ryan, M.M.; et al. Nusinersen Initiated in Infants during the Presymptomatic Stage of Spinal Muscular Atrophy: Interim Efficacy and Safety Results from the Phase 2 NURTURE Study. Neuromuscul. Disord. 2019, 29, 842–856. [CrossRef]

15. Strauss, K.A.; Farrar, M.A.; Muntoni, F.; Saito, K.; Mendell, J.R.; Servais, L.; McMillan, H.J.; Finkel, R.S.; Swoboda, K.J.; Kwon, J.M.; et al. Onasemnogene Abeparvovec for Presymptomatic Infants with Two Copies of SMN2 at Risk for Spinal Muscular Atrophy Type 1: The Phase III SPR1NT Trial. Nat. Med. 2022, 28, 1381–1389. [CrossRef]

16. Strauss, K.A.; Farrar, M.A.; Muntoni, F.; Saito, K.; Mendell, J.R.; Servais, L.; McMillan, H.J.; Finkel, R.S.; Swoboda, K.J.; Kwon, J.M.; et al. Onasemnogene Abeparvovec for Presymptomatic Infants with Three Copies of SMN2 at Risk for Spinal Muscular Atrophy: The Phase III SPR1NT Trial. Nat. Med. 2022, 28, 1390–1397. [CrossRef]

17. Schorling, D.C.; 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]

18. Dangouloff, T.; Vršcˇaj, E.; Servais, L.; Osredkar, D.; Adoukonou, T.; Aryani, O.; Barisic, N.; Bashiri, F.; Bastaki, L.; Benitto, A.; et al. Newborn Screening Programs for Spinal Muscular Atrophy Worldwide: Where We Stand and Where to Go. Neuromuscul. Disord. 2021, 31, 574–582. [CrossRef]

19. Sawada, T.; Kido, J.; Sugawara, K.; Yoshida, S.; Ozasa, S.; Nomura, K.; Okada, K.; Fujiyama, N.; Nakamura, K. Newborn Screening for Spinal Muscular Atrophy in Japan: One Year of Experience. Mol. Genet. Metab. Rep. 2022, 32, 100908. [CrossRef] [PubMed]

20. McAndrew, P.E.; Parsons, D.W.; Simard, L.R.; Rochette, C.; Ray, P.N.; Mendell, J.R.; Prior, T.W.; Burghes, A.H. Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number. Am. J. Hum. Genet. 1997, 60, 1411–1422. [CrossRef]

21. Abràmoff, M.D.; Magalhães, P.J.; Ram, S.J. Image Processing with ImageJ. Biophotonics Int. 2004, 11, 36–42.

22. Ito, M.; Yamauchi, A.; Urano, M.; Kato, T.; Matsuo, M.; Nakashima, K.; Saito, K. Epidemiological Investigation of Spinal Muscular Atrophy in Japan. Brain Dev. 2022, 44, 2–16. [CrossRef] [PubMed]

23. Chien, Y.-H.; Chiang, S.-C.; Weng, W.-C.; Lee, N.-C.; Lin, C.-J.; Hsieh, W.-S.; Lee, W.-T.; Jong, Y.-J.; Ko, T.-M.; Hwu, W.-L. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. J. Pediatr. 2017, 190, 124–129. [CrossRef]

24. Kraszewski, J.N.; Kay, D.M.; Stevens, C.F.; Koval, C.; Haser, B.; Ortiz, V.; Albertorio, A.; Cohen, L.L.; Jain, R.; Andrew, S.P.; et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet. Med. 2018, 20, 608–613. [CrossRef] [PubMed]

25. Boemer, F.; Caberg, J.H.; Beckers, P.; Dideberg, V.; di Fiore, S.; Bours, V.; Marie, S.; Dewulf, J.; Marcelis, L.; Deconinck, N.; et al. Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium. Sci. Rep. 2021, 11, 19922. [CrossRef]

26. Czibere, L.; Burggraf, S.; Fleige, T.; Glück, B.; Keitel, L.M.; Landt, O.; Durner, J.; Röschinger, W.; Hohenfellner, K.; Wirth, B.; et al. High-Throughput Genetic Newborn Screening for Spinal Muscular Atrophy by Rapid Nucleic Acid Extraction from Dried Blood Spots and 384-Well QPCR. Eur. J. Hum. Genet. EJHG 2020, 28, 23–30. [CrossRef]

27. Kariyawasam, D.S.T.; Russell, J.S.; Wiley, V.; Alexander, I.E.; Farrar, M.A. The Implementation of Newborn Screening for Spinal Muscular Atrophy: The Australian Experience. Genet. Med. 2020, 22, 557–565. [CrossRef] [PubMed]

28. Kay, D.M.; Stevens, C.F.; Parker, A.; Saavedra-Matiz, C.A.; Sack, V.; Chung, W.K.; Chiriboga, C.A.; Engelstad, K.; Laureta, E.; Farooq, O.; et al. Implementation of Population-Based Newborn Screening Reveals Low Incidence of Spinal Muscular Atrophy. Genet. Med. 2020, 22, 1296–1302. [CrossRef] [PubMed]

29. Baker, M.W.; Mochal, S.T.; Dawe, S.J.; Wiberley-Bradford, A.E.; Cogley, M.F.; Zeitler, B.R.; Piro, Z.D.; Harmelink, M.M.; Kwon, J.M. Newborn Screening for Spinal Muscular Atrophy: The Wisconsin First Year Experience. Neuromuscul. Disord. NMD 2022, 32, 135–141. [CrossRef] [PubMed]

30. Lee, T.; Tokunaga, S.; Taniguchi, N.; Fujino, T.; Saito, M.; Shimomura, H.; Takeshima, Y. Views of the general population on newborn screening for spinal muscular atrophy in Japan. Children 2021, 8, 694. [CrossRef]

31. Shinohara, M.; Niba, E.T.E.; Wijaya, Y.O.S.; Takayama, I.; Mitsuishi, C.; Kumasaka, S.; Kondo, Y.; Takatera, A.; Hokuto, I.; Morioka, I.; et al. SMA-NBS PILOT STUDY GROUP. A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study. Int. J. Neonatal Screen. 2019, 5, 41. [CrossRef]

32. Vill, K.; Schwartz, O.; Blaschek, A.; Gläser, D.; Nennstiel, U.; Wirth, B.; Burggraf, S.; Röschinger, W.; Becker, M.; Czibere, L.; et al. Newborn Screening for Spinal Muscular Atrophy in Germany: Clinical Results after 2 Years. Orphanet J. Rare Dis. 2021, 16, 153. [CrossRef]

33. Gailite, L.; Sterna, O.; Konika, M.; Isakovs, A.; Isakova, J.; Micule, I.; Setlere, S.; Diriks, M.; Auzenbaha, M. New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study. Int. J. Neonatal Screen. 2022, 8, 15. [CrossRef] [PubMed]

34. D′Silva, A.M.; Kariyawasam, D.S.T.; Best, S.; Wiley, V.; Farrar, M.A.; NSW SMA NBS Study Group. Integrating Newborn Screening for Spinal Muscular Atrophy into Health Care Systems: An Australian Pilot Programme. Dev. Med. Child Neurol. 2022, 64, 625–632. [CrossRef] [PubMed]

35. Kucera, K.S.; Taylor, J.L.; Robles, V.R.; Clinard, K.; Migliore, B.; Boyea, B.L.; Okoniewski, K.C.; Duparc, M.; Rehder, C.W.; Shone, S.M.; et al. A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check. Int. J. Neonatal Screen. 2021, 7, 20. [CrossRef]

36. Tavares, V.L.R.; Monfardini, F.; Lourenço, N.C.V.; da Rocha, K.M.; Weinmann, K.; Pavanello, R.; Zatz, M. Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs. Int. J. Neonatal Screen. 2021, 7, 53. [CrossRef] [PubMed]

37. Bradford, N.K.; Edwards, R.M.; Chan, R.J. Normal Saline (0.9% Sodium Chloride) versus Heparin Intermittent Flushing for the Prevention of Occlusion in Long-term Central Venous Catheters in Infants and Children. Cochrane Database Syst. Rev. 2020, 4, CD010996.

38. Tizzano, E.F.; Finkel, R.S. Spinal Muscular Atrophy: A Changing Phenotype beyond the Clinical Trials. Neuromuscul. Disord. 2017, 27, 883–889. [CrossRef]

39. Sumner, C.J.; Crawford, T.O. Two Breakthrough Gene-Targeted Treatments for Spinal Muscular Atrophy: Challenges Remain. J. Clin. Investigation 2018, 128, 3219–3227. [CrossRef]

40. Watihayati, M.S.; Fatemeh, H.; Marini, M.; Atif, A.B.; Zahiruddin, W.M.; Sasongko, T.H.; Tang, T.H.; Zabidi-Hussin, Z.; Nishio, H.; Zilfalil, B.A. Combination of SMN2 Copy Number and NAIP Deletion Predicts Disease Severity in Spinal Muscular Atrophy. Brain Dev. 2009, 31, 42–45. [CrossRef]

41. Kariyawasam, D.S.T.; D′Silva, A.M.; Vetsch, J.; Wakefield, C.E.; Wiley, V.; Farrar, M.A. “We Needed This”: Perspectives of Parents and Healthcare Professionals Involved in a Pilot Newborn Screening Program for Spinal Muscular Atrophy. eClinicalMedicine 2021, 33, 100742. [CrossRef] [PubMed]

42. Finkel, R.; Bertini, E.; Muntoni, F.; Mercuri, E. 209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands. Neuromuscul. Disord. 2015, 25, 593–602. [CrossRef]

43. Talbot, K.; Tizzano, E.F. The Clinical Landscape for SMA in a New Therapeutic Era. Gene Ther. 2017, 24, 529–533. [CrossRef] [PubMed]

44. Cuscó, I.; Bernal, S.; Blasco-Pérez, L.; Calucho, M.; Alias, L.; Fuentes-Prior, P.; Tizzano, E.F. Practical Guidelines to Manage Discordant Situations of SMN2 Copy Number in Patients with Spinal Muscular Atrophy. Neurol. Genet. 2020, 6, e530. [CrossRef]

45. Kitaoka, H.; Shitara, Y.; Uchida, Y.; Kondo, U.; Omori, I. Case of Spinal Muscular Atrophy Type 0 with Mild Prognosis. Pediatr. Int. 2020, 62, 106–107. [CrossRef]

46. Schwartz, O.; Kölbel, H.; Blaschek, A.; Gläser, D.; Burggraf, S.; Röschinger, W.; Schara, U.; Müller-Felber, W.; Vill, K. Spinal Muscular Atrophy-Is Newborn Screening Too Late for Children with Two SMN2 Copies? J. Neuromuscul. Dis. 2022, 9, 389–396. [CrossRef] [PubMed]

参考文献をもっと見る

全国の大学の
卒論・修論・学位論文
を
一発検索！

この論文の関連論文を見る