Idebenone – a new drug for patients with Leber's hereditary optic neuropathy

• Authors: Dorota Szumny , Karolina Czajor , Małgorzata Mulak

Title variants

PL

Idebenon – nowy lek dla pacjentów z dziedziczną neuropatią wzrokową Lebera

• Languages of publication: EN PL

Abstracts

EN

Leber's Hereditary Optic Neuropathy is a rare disease caused by a mutation in the mitochondrial DNA. It appears most often in young men, leading to profound, permanent loss of vision in a short time. There is no specific treatment for this condition. Idebenone is a medicine that administered to patients with Leber's hereditary optic neuropathy improves or stops the deterioration of vision. Increasing the number of people during therapy and the duration of treatment will allow in the future to answer the question, whether this drug is effective and safe in a larger group of patients.

PL

Dziedziczna neuropatia wzrokowa Lebera jest rzadką chorobą wywoływaną mutacją w mitochondrialnym DNA. Najczęściej ujawnia się u młodych mężczyzn i w krótkim czasie prowadzi do głębokiej, trwałej utraty wzroku. Do tej pory brakuje specyficznego leczenia tego schorzenia. Podawanie idebenonu pacjentom z dziedziczną neuropatią wzrokową Lebera powoduje poprawę lub zahamowanie pogorszenia widzenia. Zwiększenie liczby osób w trakcie terapii oraz czasu prowadzonego leczenia pozwoli w przyszłości odpowiedzieć na pytanie, czy lek ten jest skuteczny i bezpieczny dla większej grupy pacjentów.

Keywords

EN

LHON; Leber hereditary optic neuropathy; idebenone

Discipline

• MEDICINE: MEDICINE

• Publisher: Medical Education
• Journal: OphthaTherapy
• Year: 2021
• Volume: 8
• Issue: 1
• Pages: 32-36

Contributors

author

Dorota Szumny

• 1. Chair and Department of Pharmacology, Medical University of Wroclaw. 2. Department of Ophthalmology, University Clinical Hospital in Wroclaw

author

Karolina Czajor

• 1. Department of Ophthalmology, University Clinical Hospital in Wroclaw. 2. Department and Clinic of Ophthalmology, Wroclaw Medical University

author

Małgorzata Mulak

• 1. Department of Ophthalmology, University Clinical Hospital in Wroclaw. 2. Department and Clinic of Ophthalmology, Wroclaw Medical University

References

• 1. Berardo A, Emmanuele V, Vargas W et al. Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6. J Neurol. 2020; 267(3): 823-9.
• 2. Majander A, Bowman R, Poulton J et al. Childhood-onset Leber hereditary optic neuropathy. Br J Ophthalmol. 2017; 101(11): 1505-9.
• 3. Priglinger C, Klopstock T, Rudolph G et al. Leber’sche hereditäre Optikusneuropathie. Klin Monbl Augenheilkd. 2019; 236(11): 1271-82.
• 4. Yu-Wai-Man P, Votruba M, Moore AT et al. Treatment strategies for inherited optic neuropathies: past, present and future. Eye (Lond). 2014; 28(5): 521-37.
• 5. Roskal-Wałek J, Gierada M, Mackiewicz J. Dziedziczna neuropatia wzrokowa Lebera – opis przypadku. Klinika Oczna / Acta Ophthalmologica Polonica. 2018; 120(4): 227-31.
• 6. Piotrowska-Nowak A, Krawczyński MR, Kosior-Jarecka E et al. Mitochondrial genome variation in male LHON patients with the m.11778G> A mutation. Metab Brain Dis. 2020; 35(8): 1317-27.
• 7. Wang M, Guo H, Li S et al. Electrophysiological and Structural Changes in Chinese Patients with LHON. J Ophthalmol. 2020; 2020: 4734276.
• 8. Newman NJ. Treatment of hereditary optic neuropathies. Nat Rev Neurol. 2012; 8(10): 545-56.
• 9. Suno M, Nagaoka A. Inhibition of lipid peroxidation by idebenone in brain mitochondria in the presence of succinate. Arch Gerontol Geriatr. 1989; 8(3): 291-7.
• 10. Lyseng-Williamson KA. Idebenone: a review in Leber’s hereditary optic neuropathy. Drugs. 2016; 76(7): 805-13.
• 11. Carelli V, Consensus Study Group. Consensus on guidelines for idebenone administration in Leber's hereditary optic neuropathy (LHON). Acta Ophthalmologica, 2016; 94.
• 12. Klopstock T, Metz G, Yu-Wai-Man P et al. Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy. Brain. 2013; 136(2): e230.
• 13. Carelli V, La Morgia C, Valentino ML et al. Idebenone treatment in Leber's hereditary optic neuropathy. Brain. 2011; 134(9): e188.
• 14. Mashima Y, Hiida Y, Oguchi Y. Remission of Leber's hereditary optic neuropathy with idebenone. Lancet. 1992; 340(8815): 368-9.
• 15. Barboni P, Savini G, Valentino ML et al. Leber’s hereditary optic neuropathy with childhood onset. Invest Ophthalmol Vis Sci. 2006; 47(12): 5303-9.
• 16. Dimitriadis K, Leonhardt M, Yu-Wai-Man P et al. Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients. Orphanet J Rare Dis. 2014; 9(1): 158.
• 17. Carelli V, Valentino ML, Liguori R et al. Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases. J Neurol Neurosurg Psychiatry. 2001; 71(6): 813-6.
• 18. Watanabe M, Mita S, Takita T et al. Leber's hereditary optic neuropathy with dystonia in a Japanese family. J Neurol Sci. 2006; 243(1-2): 31-4.
• 19. Nikoskelainen E, Marttila RJ, Huoponen K et al. Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 1995; 59(2): 160-4.
• 20. Harding A, Sweeney MG, Miller DH et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain. 1992; 115(4): 979-89.
• 21. Cortelli P, Montagna P, Pierangeli G et al. Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study. J Neurol Sci. 1997; 148(1): 25-31.
• 22. Bianco A, Martínez-Romero I, Bisceglia L et al. Mitochondrial DNA copy number differentiates the Leber’s hereditary optic neuropathy affected individuals from the unaffected mutation carriers. Brain. 2016; 139(1): e1.
• 23. Augustyniak J, Lenart J, Zychowicz M et al. Mitochondrial biogenesis and neural differentiation of human iPSC is modulated by idebenone in a developmental stage-dependent manner. Biogerontology. 2017; 18(4): 665-77.

• Document Type: article