Results 71 to 80 of about 2,169 (197)

Newer advances in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

Journal of Current Research in Scientific Medicine, 2019
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two common and important Inherited neuromuscular disorders which have witnessed immense advances in their treatment owing to ongoing developments in gene therapy.
Mukesh Kumar, Venugopalan Y Vishnu
doaj   +1 more source

Risdiplam Impact in Treatment Naïve and Non‐Naïve Pediatric and Adult Patients With Spinal Muscular Atrophy

European Journal of Neurology, Volume 33, Issue 4, April 2026.
This 36‐month prospective study of 34 symptomatic SMA patients (ages 6.9–50.9 years) found significant motor and quality of life improvements with risdiplam treatment. Treatment‐naïve patients showed notable gains in MFM‐32 and RULM scores, while those switching therapies improved in MFM‐32.
Pak On Patrick Yee, Hayley Hoi Ning Ip, Michael Kwan Leung Yu, Pui Kei Cheng, Wilfred Hing Sang Wong, Patrick Pak Hei Ng, Nathan Sheung Tat Kwong, Priscillia Lam, Mei Wun Cheung, Angel Tung, Stephen Chan, Shirley Ng, Wai Lan Yeung, Sheila Wong, Yuen Gao, Shirley Pang, Sophelia Hoi Shan Chan   +16 more
wiley   +1 more source

Adult Survival in SMA Type 1: A 23‐Year Journey With Home Ventilation and Multidisciplinary Support

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Diffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Antonio E. Camelo‐Filho, Renata Monteiro Jovino, Betina S. Tomaz, Paulo R. Nóbrega, Marcelo A. Holanda   +4 more
wiley   +1 more source

Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain [PDF]

BACKGROUND: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by mutations in Survival motor neuron 1 (SMN1) gene, leading to reduction in survival motor neuron protein (SMN), key for motor neuron survival and function in the ...
Ambegaonkar, Gautam, Baranello, Giovanni, Childs, Anne-Marie, Chow, Gabriel, Cornell, Nikki, Hughes, Imelda, Illingworth, Marjorie, Majumdar, Anirban, Marini-Bettolo, Chiara, Munot, Pinki, paediatric UK risdiplam EAMS working group, ., Parasuraman, Deepak, Scoto, Mariacristina, Spinty, Stefan, Willis, Tracey, Wraige, Elizabeth   +15 more
core  

A Brand-New Metal Complex Catalyst-Free Approach to the Synthesis of 2,8-Dimethylimidazo[1,2-b]pyridazine-6-Carboxylic Acid—A Key Intermediate in Risdiplam Manufacturing Process

Molecules
In this study, we report for the first time a brand-new protocol for the multigram-scale synthesis of 5-methyl-6-oxo-1,6-dihydropyridazine-3-carboxylic and 2,8-dimethylimidazo[1,2-b]pyridazine-6-carboxylic acids, without the utilization of metal-complex ...
Georgiy Korenev, Alexey A. Gutenev, Fyodor V. Antipin, Vladimir V. Chernyshov, Maria P. Korobkina, Maxim B. Nawrozkij, Roman A. Ivanov   +6 more
doaj   +1 more source

Effects of High‐ and Low‐Fat Meals on the Bioavailability and Pharmacokinetics of Votoplam, a HTT Gene Splicing Modifier

Clinical Pharmacology in Drug Development, Volume 15, Issue 3, March 2026.
Abstract Votoplam is a novel, orally bioavailable, small molecule HTT gene splicing modifier that is being developed for the treatment of Huntington's disease. This was a single dose, open‐label, two‐period, crossover food effect study that evaluated the effect of high‐ and low‐fat meals on 20 mg votoplam in healthy participants. There was a washout of
Lucy Lee, Amy‐Lee Richards, Nageswara Reddy, Brian Beers, Lee Golden, Ronald Kong   +5 more
wiley   +1 more source

Quantitative Whole‐Body Muscle MRI in Adults With Spinal Muscular Atrophy–A Sensitive Tool for Long‐Time Evaluation of Disease Progression

European Journal of Neurology, Volume 33, Issue 3, March 2026.
Quantitative muscle MRI is emerging as an objective biomarker for monitoring therapy in neuromuscular disorders, yet long‐term trajectories in slowly progressive adult spinal muscular atrophy (SMA) remain unclear. In this study, quantitative MRI parameters in nusinersen‐treated adults were longitudinally evaluated and compared with established clinical
Alexander Mensch, Benjamin Troppa, Ilka Schneider, Caroline Deborah Stapf, Anna Katharina Koelsch, Thomas Kendzierski, David Strube, Sebastian Plutz, Max Obenauf, Karl‐Stefan Delank, Torsten Kraya, Markus Otto, Dietrich Stoevesandt, Steffen Naegel   +13 more
wiley   +1 more source

Formation of Fused Ring Junction N-Heterocycles via Cp*Rh(III) Imidoyl C–H Activation and Application to RNA Targeting [PDF]

, 2022
Nitrogen heterocycles are present in almost two-thirds of U.S. FDA approved pharmaceuticals, garnering interest in the ability to rapidly access these structures displaying different functional groups.
Streit, Andrew Douglas
core   +1 more source

Specificity, synergy, and mechanisms of splice-modifying drugs

Nature Communications
Drugs that target pre-mRNA splicing hold great therapeutic potential, but the quantitative understanding of how these drugs work is limited. Here we introduce mechanistically interpretable quantitative models for the sequence-specific and concentration ...
Yuma Ishigami, Mandy S. Wong, Carlos Martí-Gómez, Andalus Ayaz, Mahdi Kooshkbaghi, Sonya M. Hanson, David M. McCandlish, Adrian R. Krainer, Justin B. Kinney   +8 more
doaj   +1 more source

Transforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2

Biomedicines
Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disorder and a leading genetic cause of infant mortality. The past decade has witnessed a paradigm shift in SMA management with the advent of disease-modifying drugs (DMDs).
Andrej Belančić, Patrick Castillo Eustaquio, Elvira Meni Maria Gkrinia, Valentino Rački, Kristina Pilipović, Dinko Vitezić   +5 more
doaj   +1 more source