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Expert council resolution on the use of pathogenetic therapy with Ataluren in patients with non-ambulatory Duchenne muscular dystrophy

https://doi.org/10.46563/2686-8997-2022-3-4-148-151

Abstract

Прогрессирующая мышечная дистрофия Дюшенна (МДД) — это редкое хроническое прогрессирующее наследственное Х-сцепленное рецессивное заболевание, вызванное мутациями в гене DMD [1–9].

About the Authors

Svetlana B. Artemyeva
Pirogov Russian National Research University
Russian Federation

MD, Ph.D., Head of the Neurological department of the Research Clinical Institute of Pediatrics and Pediatric Surgery named after Academician Yu.E. Veltischev of the Pirogov Russian National Research University (Russia)


Dmitry V. Vlodavets
Russian Children’s Neuromuscular Center; Research Clinical Institute of Pediatrics and Pediatric Surgery named after Academician Yu.E. Veltischev; Pirogov Russian National Research University
Russian Federation

MD, Ph.D., Associated Professor, Head of the Russian Children’s Neuromuscular Center, leading researcher of the Department of psychoneurology and epileptology of the Research Clinical Institute of Pediatrics and Pediatric Surgery named after Academician Yu.E. Veltischev, Associate Professor of the Department of neurology, neurosurgery and medical genetics named after Academician L.O. Badalyan of the Pediatric Faculty of the Pirogov Russian National Research University (Russia)


Valentina I. Guzeva
St. Petersburg State Pediatric Medical University of the Ministry of Health of Russia; Russian Society of Neurologists
Russian Federation

MD, Ph.D., DSci., Professor, Chief freelance children’s specialist of the Ministry of Health of the Russian Federation in Neurology, Honored Scientist of the Russian Federation, Head of the Department of neurology, neurosurgery and medical genetics of the St. Petersburg State Pediatric Medical University, Member of the Presidium of the Russian Society of Neurologists (Russia)


Altynshash K. Dzhaksybayeva
Astana Medical University
Russian Federation

MD, Ph.D., DSci., Prof., Head of the Neurological department of Astana Medical University, the Chief Children’s Freelance Neurologist of the Republic of Kazakhstan (Kazakhstan)


Irina V. Zhauniaronak
Belarusian Medical Academy of Postgraduate Education
Russian Federation

MD, PhD, Associated Professor of the Department of pediatric neurology of the Belarusian Medical Academy of Postgraduate Education, Chief Specialist in Neuromuscular Diseases of the Republic of Belarus (Belarus);


Ludmila M. Kuzenkova
Centre for Children’s Psychoneurology; National Medical Research Centre for Children’s Health of the Ministry of Health of the Russian Federation; Clinical Institute of Children’s Health named after N.F. Filatov of the First Moscow State Medical University named after I.M. Sechenov of the Ministry of Health of Russia (Sechenov University)
Russian Federation

MD, Ph.D., DSci., Prof., Head of the Centre for Children’s Psychoneurology, Head of the Department of psychoneurology and psychosomatic pathology of the National Medical Research Centre for Children’s Health of the Ministry of Health of the Russian Federation, professor of the Department of pediatrics and pediatric rheumatology, Clinical Institute of Children’s Health named after N.F. Filatov  of the First Moscow State Medical University named after I.M. Sechenov of the Ministry of Health of Russia (Sechenov University (Russia)


Marzhan M. Lepessova
Kazakh-Russian Medical University; Associations of Pediatric Neurologists of the Republic of Kazakhstan
Russian Federation

MD, Ph.D., DSci., Prof., Head of the Department of Neurology of the Kazakh-Russian Medical University, President of the Association of Pediatric Neurologists of the Republic of Kazakhstan, Almaty (Kazakhstan)


Bakhyt D. Myrzalieva
Kazakh-Russian Medical University; Public Health Department
Russian Federation

MD, Master of Medicine, Senior Lecturer, Department of neurology, Kazakh-Russian Medical University, Coordinator for Neuromuscular Diseases at the Public Health Department, Almaty (Kazakhstan)


Natalia L. Pechatnikova
Orphan Center at the Morozov Clinical Hospital in Moscow
Russian Federation

MD, Head of the Orphan Center at the Morozov Clinical Hospital in Moscow (Russia)


Tatyana V. Podkletnova
National Medical Research Centre for Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation

MD, Ph.D., senior researcher of the Laboratory of nervous diseases in children of the National Medical Research Centre for Children’s Health of the Ministry of Health of the Russian Federation (Russia)


Vasily M. Suslov
St. Petersburg State Pediatric Medical University
Russian Federation

MD, Ph.D., Associated Professor of the department of rehabilitology of the Faculty of postgraduate and additional postgraduate education of St. Petersburg State Pediatric Medical University (Russia)


Irina V. Pelipenko
Regional Children’s Clinical Hospital of the Health Committee of the Kursk Region
Russian Federation

MD, Head of the Neurological department of the Regional Children’s Clinical Hospital of the Health Committee of the Kursk Region, Chief Freelance Specialist, Pediatric Neurologist of the Kursk Region (Russia)


Luca Bello
University of Padova
Russian Federation

MD, Ph.D., Prof., Department of pediatric neurology, University of Padova (Italy)


Niculina Butoianu
Carol Davila University of Medicine and Pharmacy
Russian Federation

MD, Ph.D., Head of the Department of pediatric neurology of Carol Davila University of Medicine and Pharmacy, Bucharest (Romania)


References

1. Ebrahimi-Fakhari D., Dillmann U., Flotats-Bastardas M., Poryo M., Abdul-Khaliq H., Shamdeen M.G., et al. Off-label use of ataluren in four non-ambulatory patients with Duchenne muscular dystrophy: effects on cardiac and pulmonary function and muscle strength. Front. Pediatr. 2018; 6: 316. https://doi.org/10.3389/fped.2018.00316

2. McDonald C.M., Muntoni F., Penematsa V., Jiang J., Kristensen A., Bibbiani F., et al. Tulinius. Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients. J. Comp. Eff. Res. 2022; 11(3): 139–55. https://doi.org/10.2217/cer-2021-0196

3. Matthews E., Brassington R., Kuntzer T., Jichi F., Manzur A.Y. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst. Rev. 2016; 2016(5): CD003725. https://doi.org/10.1002/14651858.cd003725.pub4

4. Lue Y.J., Lin R.F., Chen S.S., Lu Y.M. Measurement of the functional status of patients with different types of muscular dystrophy. Kaohsiung J. Med. Sci. 2009; 25(6): 325–33. https://doi.org/10.1016/s1607-551x(09)70523-6

5. Gandolla M., Antonietti A., Longatelli V., Biffi E., Diella E., Delle Fave M., et al. Test-retest reliability of the Performance of Upper Limb (PUL) module for muscular dystrophy patients. PLoS One. 2020; 15(9): e0239064. https://doi.org/10.1371/journal.pone.0239064

6. Mercuri E., Muntoni F., Osorio A.N., Tulinius M., Buccella F., Morgenroth L.P., et al. Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. J. Comp. Eff. Res. 2020; 9(5): 341–60. https://doi.org/10.2217/cer-2019-0171

7. Landfeldt E., Sejersen T., Tulinius M. A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy. Acta Paediatr. 2019; 108(2): 224–30. https://doi.org/10.1111/apa.14568

8. Bernert G., Hahn A., Köhler C., Meyer S., Schara U., Schlachter K., et al. Expert recommendation: treatment of nonambulatory patients with Duchenne muscular dystrophy. Nervenarzt. 2021; 92(4): 359–66. https://doi.org/10.1007/s00115-020-01019-3

9. Landfeldt E., Lindberg C., Sejersen T. Improvements in health status and utility associated with ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy. Muscle Nerve. 2020; 61(3): 363–8. https://doi.org/10.1002/mus.26787

10. State Register of Medicines. Instructions for medical use of the drug Ataluren. Available at: https://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=35b3ba88-619c-47a1-be41-ec0eba8d7000 (in Russian)

11. PTC Therapeutics. STRIDE data show Translarna™ delays loss of ambulation by more than five years in boys with nonsense mutation Duchenne muscular dystrophy. Available at: https://ir.ptcbio.com/news-releases/news-release-details/stride-data-show-translarnatm-delays-loss-ambulation-more-five


Review

For citations:

Artemyeva S.B., Vlodavets D.V., Guzeva V.I., Dzhaksybayeva A.K., Zhauniaronak I.V., Kuzenkova L.M., Lepessova M.M., Myrzalieva B.D., Pechatnikova N.L., Podkletnova T.V., Suslov V.M., Pelipenko I.V., Bello L., Butoianu N. Expert council resolution on the use of pathogenetic therapy with Ataluren in patients with non-ambulatory Duchenne muscular dystrophy. L.O. Badalyan Neurological Journal. 2022;3(4):148-151. (In Russ.) https://doi.org/10.46563/2686-8997-2022-3-4-148-151

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ISSN 2686-8997 (Print)
ISSN 2712-794X (Online)

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