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Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy

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Abstract

Background

Advances in treatment for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) hold promise for children with these disorders. Accurate genetic diagnosis, early in the disease process, will allow these treatments to be most effective. Newborn screening (NBS) for SMA has been recommended in the United States, and a pilot DMD NBS program is underway in Hangzhou, China.

Data sources

A PubMed search, limited to the past 5 years, was conducted to identify: (1) therapeutic advancements for DMD/SMA approved by the United States Food and Drug Administration or the European Medicine Agency and (2) The status of NBS for DMD/SMA.

Results

We review the current state of approved treatments for DMD/SMA. We present recommendations regarding the future of NBS for these diseases, with a focus on the outcomes and challenges of SMA NBS in New York, USA, and the DMD NBS pilot program in Hangzhou, China.

Conclusions

Approved treatments for DMD and SMA may change the natural history of these diseases. Long-term studies of these treatments are underway. To avoid the known diagnostic delay associated with these disorders and provide optimal effectiveness of these treatments, early identification of patients through NBS will be necessary. Establishing comprehensive follow-up plans for positively identified patients will need to be in place for NBS programs to be successful.

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Author information

Authors and Affiliations

  1. Department of Neurology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China

    Qing Ke

  2. Children’s Hospital, Zhejiang University School of Medicine, Hangzhou, China

    Zheng-Yan Zhao

  3. Department of Pediatrics and Neurology, Nationwide Children’s Hospital, Columbus, OH, USA

    Jerry R. Mendell

  4. Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

    Mei Baker

  5. Disciplines of Genetic Medicine and Pediatric and Child Health, University of Sydney, Sydney, Australia

    Veronica Wiley

  6. Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

    Jennifer M. Kwon

  7. Department of Pediatrics, Nationwide Children’s Hospital, Columbus, OH, USA

    Lindsay N. Alfano

  8. Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA

    Anne M. Connolly

  9. Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA

    Catherine Jay, Emma Ciafaloni & Robert C. Griggs

  10. PerkinElmer Inc, Turku, Finland

    Hanna Polari

  11. Department of Clinical Laboratory, Zhejiang University School of Medicine, Hangzhou, China

    Ming Qi

  12. Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA

    Michele A. Gatheridge

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  1. Qing Ke
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  2. Zheng-Yan Zhao
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  3. Jerry R. Mendell
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  4. Mei Baker
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  5. Veronica Wiley
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  7. Lindsay N. Alfano
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  8. Anne M. Connolly
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  9. Catherine Jay
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  10. Hanna Polari
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  11. Emma Ciafaloni
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  12. Ming Qi
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  13. Robert C. Griggs
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  14. Michele A. Gatheridge
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Contributions

QK: acquisition of data and interpretation of data; drafting/revising the article critically for important intellectual content; final approval of the version to be published; ZZ, JRM, MB, VW, JMK, LNA, AMC, CJ, HP, EC, QM: revising the article critically for important intellectual contact; final approval of the version to be published; RCG: conceptualization, acquisition of data and interpretation of data; drafting/revising the article critically for important intellectual contact; final approval of the version to be published; MAG: acquisition of data and interpretation of data; drafting/revising the article critically for important intellectual contact; final approval of the version to be published.

Corresponding author

Correspondence to Michele A. Gatheridge.

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Ethical approval was not obtained since this is a literature review article.

Conflict of interest

Q. Ke, Z. Zhao, M. Baker, V. Wiley, J. M. Kwon, L. N. Alfano, C. Jay, E. Ciafaloni, M. Qi, M. A. Gatheridge: no financial benefits have been received or will be received from any party related directly or indirectly to the subject of this article; J. R. Mendell: Dr. Mendell is a Consultant for Sarepta Therapeutics, Avexis (Novartis) therapeutics, and Exonics. He receives consulting fees but no salary. He is reimbursed for presenting clinical trials that pertain to the products sponsored by these companies. He also serves on the Scientific Advisory Boards of the companies. He has no interests from or investments in products that he tests in clinical trials; A. M. Connolly: Dr. Connolly is site principal investigator for multiple studies funded by industry (Sarepta, Avexis, Biogen, PTC Therapeutics, Pfizer, BMS, Fibrogen, Italafarma and NS Pharma). In the last 2 years, Dr. Connolly has served on advisory boards for Sarepta, Avexis, Genetech-Roche, Acceleron, Astelles, Mallincrodt, and SMA Foundation. She is also on the DMSB for Catabasis. Dr. Connolly does not have stock in any company; H. Polari: employee of PerkinElmer Inc; R. C. Griggs: Dr. Griggs has received a research grant support from Marathon, PTC and Sarepta Pharmaceuticals for work related to Duchenne muscular dystrophy. He is also supported by the U.S. National Institutes of Health, the Muscular Dystrophy Association and the Parent Project for Muscular Dystrophy for research on Duchenne muscular dystrophy. He consults for Solid Bioscience.

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Ke, Q., Zhao, ZY., Mendell, J.R. et al. Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy. World J Pediatr 15, 219–225 (2019). https://doi.org/10.1007/s12519-019-00242-6

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