Neuromuscular Disorders

C. Thomsen, J. Gurgel-Giannetti, Y. Sunnerhagen, A. Giannetti, F. Kok, M. Vainzof, A. Oldfors October 4, 2019

Iron-sulphur (Fe-S) cluster-containing enzymes are essential for generation of energy for metabolic purposes. The mitochondrial respiratory chain, which includes Fe-S containing enzymes (Complex I-III) and a heme-containing enzyme (Complex IV), may be affected secondary to defects in Fe-S cluster biogenesis. How such defects affect the five enzyme complexes of the respiratory chain at the cellular level in tissues has not been clarified.… Read More...

I. Verhaart, A. Johnson, S. Thakrar, E. Vroom, F. De Angelis, F. Muntoni, A. Aartsma-Rus, E. Niks October 4, 2019

The number of clinical trials for Duchenne muscular dystrophy is increasing. Many trials require muscle biopsies, which involve an invasive surgical procedure. Little is known about short- and long-term impacts of muscle biopsies as perceived by patients and caregivers. Therefore, a survey was held among patients and their caregivers who participated in trials involving muscle biopsies in seven countries.… Read More...

Y. Kim, T. Ha, J. Ahn October 4, 2019

Estrogen deficiency can promote an increase in body mass adiposity and evoke a decrease in muscle mass and muscle strength. Sarcopenia is frequently observed in postmenopausal women. Although age-related changes in the hormonal status, low level of physical activity, reduced protein intake are regarded as potential causes of sarcopenia, little is known about the effects of estrogen deficiency on skeletal muscle mitochondrial function and whether mitochondrial dysfunction is associated with sarcopenia.… Read More...

C. Brogna, G. Coratti, M. Pane, V. Ricotti, S. Messina, C. Bruno, A. Berardinelli, F. Ricci, R. Battini, L. Bello, E. Pegoraro, G. Baranello, S. Previtali, L. Politano, G. Comi, A. D'Amico, E. Bertini, F. Muntoni, N. Goemans, E. Mercuri October 4, 2019

Recent clinical trials using dystrophin restoration approaches, such as antisense oligonucleotides for exons skipping or approaches targeting non-sense mutations have shown encouraging results. The interpretation of the long-term results of the clinical trials however is complicated by the paucity of long-term prospective natural history data in patients with distinct genotypes.… Read More...

N. Løkken, T. Khawajazada, J. Storgaard, D. Raaschou-Pedersen, M. Ørngreen, J. Vissing October 4, 2019

Mitochondrial myopathies (MM) are caused by mutations that affect proteins involved in oxidative phosphorylation. Main symptoms are exercise intolerance and fatigue. Currently, there is no specific treatment for MM. Resveratrol (RSV) is a well-known nutritional supplement that may target several mitochondrial metabolic pathways.… Read More...

M. Chabane, W. Dioh, P. Dilda, R. Lafont, S. Veillet, T. Voit, S. Agus October 4, 2019

Clinical development of new medications is traditionally broken down into 3 phases. This prevents patients from participating in more than one of the development phases and comes with a burden on site staff (with repeated site initiation and training) leading to prolonged development timelines (up to 10 years) and difficulties in patient recruitment, especially in rare diseases such as DMD.… Read More...

J. Quan, C. Domínguez-González, C. Paradas, M. Madruga-Garrido, A. Nascimento Osorio, F. Munell, H. Mandel, T. Falik-Zaccai, M. Ginsberg, G. Tal, C. Garone, E. Barca, T. Moors, M. Hirano October 4, 2019

TK2 is a mitochondrial enzyme that phosphorylates thymidine (dT) and deoxycytidine (dC) to generate deoxycytidine and deoxythymidine monophosphates (dCMP/dTMP). TK2 deficiency, an ultra-rare autosomal recessive disorder, results in severe mitochondrial DNA depletion, deletions, or both due to unbalanced nucleotide pools. TK2 deficiency presents as a severe progressive proximal muscle weakness.… Read More...

N. Goemans, B. Wong, F. Muntoni, C. McDonald, E. Mercuri, Investigators for the PRODMD01, A. Mazur, UK NorthStar Clinical Network, J. Signorovitch, G. Sajeev, H. Wong, I. Hussain, M. Jenkins, S. Ward October 4, 2019

Use of natural history (NH) controls in DMD drug evaluations is of high interest, but subject to concerns that differences in patient populations or outcome assessments could bias comparisons between NH and clinical trials, especially for performance-based outcomes. To assess this concern for NSAA, we compared outcomes between NH data sources and clinical trial placebo arms.… Read More...

P. Serrano-Lorenzo, I. Hidalgo, A. González-Quintana, J. Docampo, J. Sánchez-Zapardiel, G. Amate, A. Delmiro, J. Arenas, C. Domínguez-González, A. Blázquez-Encinar, M. Martín October 4, 2019

Multiple mitochondrial DNA (mtDNA) deletions (MD) are a molecular phenotype caused by mutations in nuclear genes involved in maintenance of mtDNA, and have also been linked to aging. MD are frequently reported associated with late-onset maintenance disorders (LOMD) such as progressive external ophthalmoplegia (PEO), neuropathy-ataxic syndromes (ANS) or dominant optic atrophy-plus (DOA+).… Read More...

A. Zambon, E. Ferlini, E. Albamonte, G. Baranello, E. Bertini, A. D'Amico, G. D'Angelo, C. Fiorillo, S. Messina, S. Messina, M. Moggio, T. Mongini, M. Natali Sora, M. Pane, A. Pini, L. Politano, F. Ricci, G. Vita, E. Mercuri, G. Comi, S. Previtali October 4, 2019

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized by progressive weakening and wasting of skeletal muscles, which usually leads to loss of ambulation between 12-14 years. DMD is caused by mutations in the dystrophin gene: 70% deletions, 15-30% point mutations and 10% duplications that induce a frameshift in the protein-coding sequence.… Read More...

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