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Leber's Hereditary Optic Neuropathy (LHON)/ Leber's Optic Atrophy (LOA)
Published in Charles Theisler, Adjuvant Medical Care, 2023
Idebenone: Taking idebenone can improve vision in people with early stage Leber's disease.4 One small, non-randomized trial reported that oral administration of a quinone analogue (idebedone) and vitamin supplementation with vitamins B12 and C helped with visual recovery.5,6
Inherited Optic Neuropathies
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Hui-Chen Cheng, Jared Ching, An-Guor Wang, Patrick Yu-Wai-Man
Idebenone is a synthetic, short-chain analogue of ubiquinone, which is responsible for shuttling electrons from complexes I and II directly to complex III (44–46). The current evidence indicates that a subgroup of LHON patients benefits from idebenone and there is a greater likelihood of a positive response when treatment is initiated within the first year of disease onset (44, 47). Idebenone has been approved by the European Medicine Agency (EMA) to treat LHON and the recommended dose is 300 milligrams three times per day (48). Gene therapy based on allotopic expression of wild-type MTND4 is showing promise for LHON patients carrying the m.11778 G>A mtDNA mutation who are treated within 1 year of disease onset (42, 49, 50). Mitochondrial replacement therapy has been developed to prevent the maternal transmission pathogenic mtDNA mutations, but there are concerns regarding the ethical implications and long-term health implications (42, 51). Treatment strategies for other inherited optic neuropathies besides LHON are still in the preclinical phase of development.
Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS)
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Coenzyme Q has been reported to be helpful in a number of patients, as has its analog idebenone [14]. Some amelioration of muscle weakness has been observed, as well as some decrease in plasma levels of lactate. CSF lactate did not improve. Doses of 30–90 mg/day were reported [14]. In MELAS, doses as high as 100 mg/kg per day in children or 2.5 g/day for adults have been stated to be required for optimal effects [13, 14].
The Natural History of Leber’s Hereditary Optic Neuropathy in an Irish Population and Assessment for Prognostic Biomarkers
Published in Neuro-Ophthalmology, 2022
Kirk A. J. Stephenson, Joseph McAndrew, Paul F. Kenna, Lorraine Cassidy
Idebenone therapy (900 mg/day) was commenced in 50% (n = 22/44) of patients a median 4 months (range 1–36) after initial presentation and was continued for 2 years. Idebenone therapy was not associated with any significant differences in VA change (+0.661 vs +0.700, p = .968) or final VA (1.584 vs 1.650, p = .793), though heteroplasmy was significantly associated with idebenone response (p = .045). Ten eyes of six patients (22.7%, 10/44 eyes) in the idebenone-treated group showed improvement from presenting VA (mean improvement −0.59 SD 0.35). Responding cases were predominantly 11778 aetiology (83.3%, n = 5/6). Spontaneous visual recovery was detected in three eyes of two patients (6.8%, n = 3/44 eyes) in the untreated group (mean improvement −1.03 SD 1.10, 50% 11778 and 50% 14484). Of all eyes that improved, final VA was 0.82 SD 0.49 and 0.73 AD 1.18 for the idebenone treated and untreated groups, respectively.
Protective Effects of Idebenone against Sepsis Induced Acute Lung Damage
Published in Journal of Investigative Surgery, 2022
Erol Akpinar, Zerrin Kutlu, Duygu Kose, Pelin Aydin, Taha Tavaci, Zafer Bayraktutan, Tugba Nurcan Yuksel, Serkan Yildirim, Gizem Eser, Busra Dincer
Recent studies have demonstrated a strong relation between oxidative stress and the pathogenesis of sepsis [13, 14]. Idebenone (IDE),containing a benzoquinone ring,is a synthetic analog of coenzyme Q10 [15]. It is a powerful antioxidant that inhibits lipid peroxidation and protects cells against oxidative damage [16]. Due to the participation of the benzoquinone ring of IDE in redox reactions, IDE inhibits lipid peroxidation and protects the redox balance by inhibiting free radicals, such as superoxide and peroxyl radicals [17]. Previous studies showed that IDE exerted a protective effect against oxidative stress and reduced levels of various proinflammatory cytokines [18–21]. Thus, the literature suggests that IDE, with its potent anti-inflammatory and antioxidant properties,may protect against inflammation associated with sepsis.
New developments in pharmacotherapy for Friedreich ataxia
Published in Expert Opinion on Pharmacotherapy, 2019
Alexandra Clay, Patrick Hearle, Kim Schadt, David R. Lynch
Strategies have developed to address downstream mitochondrial abnormalities resulting from frataxin deficiency in FRDA and improve overall mitochondrial function. Many of the proposed agents represent variant forms of antioxidants. Idebenone, an antioxidant and short-chain benzoquinone derivative, supports mitochondrial function and ATP production [88,101–109] (Figure 2). Similar in structure to Idebenone, Coenzyme Q10 is a small lipophilic molecule that has antioxidant properties and transports electrons within the mitochondria [110–112] (Figure 3). The potential therapeutic benefits of both Idebenone and Coenzyme Q10 have been tested in-depth. Several early trials with Idebenone suggested cardiac benefits, either in significantly reduced left ventricular mass or reduced interventricular septal thickness, when compared with the placebo group [101–103,111]. However, a later study showed no cardiac improvement in subjects treated with Idebenone compared with the placebo group [104]. Additionally, Idebenone produced a larger effect in subjects whose hearts were more hypertrophic. Thus, the variability of results among studies of Idebenone as well as the question of whether the cardiac thickness is a clinically meaningful outcome measure in FRDA reveal the uncertainty in the benefit of Idebenone on cardiac dysfunction in FRDA.